Variant report

Variant	rs374813667
Chromosome Location	chr11:65340950-65340951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr11:65340869-65345892	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:65339392-65341021	PANC-1	pancreas:	n/a	n/a
3	MXI1	chr11:65338853-65345385	IMR90	lung:	n/a	chr11:65342308-65342323 chr11:65339691-65339700
4	POU2F2	chr11:65340856-65342240	GM12878	blood:	n/a	chr11:65341754-65341766 chr11:65341807-65341819 chr11:65341760-65341772
5	CHD1	chr11:65339226-65340987	IMR90	lung:	n/a	n/a
6	POLR2A	chr11:65340616-65350223	K562	blood:	n/a	n/a
7	MAZ	chr11:65339391-65345893	IMR90	lung:	n/a	chr11:65343890-65343900 chr11:65341903-65341913 chr11:65343762-65343772 chr11:65344304-65344314 chr11:65340456-65340466
8	CTCF	chr11:65340860-65341010	HBMEC	blood vessel:	n/a	n/a
9	POLR2A	chr11:65340697-65341471	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:65340834-65341133	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr11:65340807-65341247	GM12878	blood:	n/a	n/a
12	CTCF	chr11:65340880-65341030	AG04449	skin:	n/a	n/a
13	MXI1	chr11:65339046-65341120	SK-N-SH	brain:	n/a	chr11:65339691-65339700
14	ZBTB7A	chr11:65340321-65341011	ECC-1	luminal epithelium:	n/a	chr11:65340437-65340448
15	POLR2A	chr11:65340785-65341495	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:65340847-65341133	ECC-1	luminal epithelium:	n/a	n/a
17	REST	chr11:65340795-65341146	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr11:65340861-65341141	MCF-7	breast:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65339784..65341937-chr11:65625772..65627928,2	MCF-7	breast:
2	chr11:65246176..65247913-chr11:65340313..65342776,2	K562	blood:
3	chr11:65185945..65193560-chr11:65336627..65344485,19	K562	blood:
4	chr11:65182317..65198249-chr11:65333937..65346467,45	MCF-7	breast:
5	chr11:65335401..65344755-chr11:65379602..65385163,20	K562	blood:
6	chr11:65193966..65195508-chr11:65340002..65341813,2	K562	blood:
7	chr11:65138857..65141367-chr11:65340258..65342682,2	MCF-7	breast:
8	chr11:65188021..65191759-chr11:65338955..65343877,5	MCF-7	breast:
9	chr11:65340278..65343049-chr11:65386590..65388396,2	K562	blood:
10	chr11:65262109..65269742-chr11:65336183..65344125,16	MCF-7	breast:
11	chr11:65263786..65274103-chr11:65335962..65346813,28	MCF-7	breast:
12	chr11:65263724..65269268-chr11:65338505..65344270,10	K562	blood:
13	chr11:65340565..65342464-chr11:65429747..65431781,2	K562	blood:
14	chr11:65336061..65346997-chr11:65371025..65390625,42	MCF-7	breast:
15	chr11:65340005..65341826-chr11:65429099..65431021,2	MCF-7	breast:
16	chr11:65339484..65343401-chr11:65428921..65432383,5	MCF-7	breast:
17	chr11:65029169..65030974-chr11:65340092..65341693,2	MCF-7	breast:
18	chr11:64889735..64891468-chr11:65340443..65342408,2	K562	blood:
19	chr11:65340642..65343423-chr11:65617979..65623594,4	K562	blood:
20	chr11:65242924..65245419-chr11:65340092..65341743,2	K562	blood:
21	chr11:65339875..65342450-chr11:65666434..65669137,3	K562	blood:
22	chr11:65184392..65191686-chr11:65339528..65345365,10	K562	blood:

No data

Variant related genes	Relation type
SSSCA1-AS1	TF binding region
EHBP1L1	TF binding region
ENSG00000149806	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000175592	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000173327	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
3	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
4	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
5	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
6	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
7	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
8	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 gene(s)	inside rSNPs	diseases
9	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases
10	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
11	nsv897721	chr11:65278461-65422853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
12	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
13	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
14	nsv897730	chr11:65302893-65376484	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
15	nsv468599	chr11:65335705-65427346	ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
16	nsv555213	chr11:65335705-65427346	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
17	nsv897732	chr11:65335705-65427346	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
18	nsv468600	chr11:65335705-65431360	Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
19	nsv555214	chr11:65335705-65431360	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
20	nsv897733	chr11:65335705-65431360	Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
21	nsv897734	chr11:65335705-65436888	Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
22	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
23	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
24	nsv897737	chr11:65337714-65361765	Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
25	nsv897738	chr11:65337714-65380248	Genic enhancers Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
26	nsv897739	chr11:65337714-65388300	Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
27	nsv897740	chr11:65338589-65371604	Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
28	nsv897741	chr11:65338589-65376484	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
29	nsv897742	chr11:65338589-65380248	Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
30	nsv897743	chr11:65338589-65382564	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
31	nsv897744	chr11:65339099-65359435	Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
32	nsv897745	chr11:65339099-65367253	Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
33	esv3371265	chr11:65339201-65341749	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65338000-65341600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:65338000-65345600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:65338800-65341400	Active TSS	Fetal Kidney	kidney
4	chr11:65338800-65344200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:65339400-65342200	Active TSS	Ovary	ovary
6	chr11:65339600-65341000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:65339600-65341000	Active TSS	Fetal Brain Female	brain
8	chr11:65339600-65341000	Active TSS	HSMM	muscle
9	chr11:65339800-65341000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:65339800-65341000	Active TSS	Fetal Intestine Large	intestine
11	chr11:65339800-65341000	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr11:65339800-65341000	Active TSS	Thymus	Thymus
13	chr11:65339800-65341200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:65339800-65342400	Active TSS	Aorta	Aorta
15	chr11:65340200-65343400	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr11:65340400-65341000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:65340400-65341000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr11:65340400-65341000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr11:65340400-65341000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:65340400-65341000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:65340400-65341000	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr11:65340400-65341000	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr11:65340400-65341000	Flanking Active TSS	Placenta	Placenta
24	chr11:65340400-65341200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr11:65340400-65341200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr11:65340400-65341200	Enhancers	Stomach Mucosa	stomach
27	chr11:65340400-65341600	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr11:65340400-65341600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr11:65340400-65341600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr11:65340400-65341600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr11:65340400-65341600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:65340400-65341600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:65340400-65341600	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr11:65340400-65341600	Flanking Active TSS	Liver	Liver
35	chr11:65340400-65341600	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr11:65340400-65341600	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr11:65340400-65341600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr11:65340400-65341600	Flanking Active TSS	HMEC	breast
39	chr11:65340400-65341600	Flanking Active TSS	HUVEC	blood vessel
40	chr11:65340400-65341800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr11:65340400-65341800	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr11:65340400-65341800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:65340400-65341800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr11:65340400-65342400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr11:65340400-65343400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr11:65340400-65345200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr11:65340600-65341000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:65340600-65341000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:65340600-65341000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr11:65340600-65341000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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