Variant report

Variant	rs374456907
Chromosome Location	chr11:65771183-65771184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65768961-65771436	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr11:65771077-65771204	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr11:65768990-65772628	GM12878	blood:	n/a	n/a
4	HCFC1	chr11:65768883-65771260	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:65771181-65771238	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:65771154-65771264	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr11:65771180-65771529	Lung_OC	lung:	n/a	n/a
8	POLR2A	chr11:65770998-65771999	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:65770786-65772259	GM12892	blood:	n/a	n/a
10	ZBTB33	chr11:65771095-65771589	K562	blood:	n/a	n/a
11	POLR2A	chr11:65771087-65771291	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:65770832-65771510	K562	blood:	n/a	n/a
13	POLR2A	chr11:65769061-65771530	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:65771022-65772233	GM12892	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65769812..65778104-chr11:65786537..65794453,15	K562	blood:
2	chr11:65727706..65730705-chr11:65767958..65771448,5	K562	blood:
3	chr11:65768250..65771590-chr11:65817294..65821421,6	K562	blood:
4	chr11:65768121..65772581-chr11:65835630..65838620,4	MCF-7	breast:
5	chr11:65728631..65731213-chr11:65769693..65771448,3	K562	blood:
6	chr11:65771026..65774019-chr11:65782878..65784960,2	MCF-7	breast:
7	chr11:65767772..65771693-chr11:65812597..65815090,3	MCF-7	breast:
8	chr11:65626233..65629168-chr11:65768411..65771473,3	MCF-7	breast:
9	chr11:65767679..65771369-chr11:65818165..65822112,6	MCF-7	breast:
10	chr11:65768713..65771187-chr11:65815106..65817250,2	MCF-7	breast:
11	chr11:65652640..65657924-chr11:65769844..65772901,4	MCF-7	breast:
12	chr11:65727817..65730505-chr11:65769706..65771571,3	MCF-7	breast:
13	chr11:65727757..65730728-chr11:65768462..65771270,6	MCF-7	breast:
14	chr11:65380602..65383246-chr11:65768678..65771455,2	K562	blood:
15	chr11:65631727..65633927-chr11:65768782..65771616,2	MCF-7	breast:
16	chr11:65623413..65628719-chr11:65768360..65773657,11	MCF-7	breast:

No data

Variant related genes	Relation type
EIF1AD	TF binding region
ENSG00000172500	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000173327	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS 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	56 gene(s)	inside rSNPs	diseases
6	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
7	esv3347668	chr11:65770742-65771367	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	n/a
8	nsv975942	chr11:65770970-65771808	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65768000-65771200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:65768400-65771200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr11:65768400-65771200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:65768600-65771200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:65768600-65771200	Active TSS	NHDF-Ad	bronchial
6	chr11:65770400-65771200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:65770400-65771200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:65770400-65771200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr11:65770400-65771200	Flanking Active TSS	Liver	Liver
10	chr11:65770400-65771200	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr11:65770400-65771200	Flanking Active TSS	Brain Substantia Nigra	brain
12	chr11:65770600-65771200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:65770600-65771200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr11:65770600-65771200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:65770600-65771200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:65770600-65771200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:65770600-65771200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr11:65770600-65771200	Flanking Active TSS	Rectal Smooth Muscle	rectum
19	chr11:65770600-65771200	Enhancers	Spleen	Spleen
20	chr11:65770600-65771200	Flanking Active TSS	GM12878-XiMat	blood
21	chr11:65770600-65771400	Transcr. at gene 5' and 3'	Dnd41	blood
22	chr11:65770600-65771800	Enhancers	Fetal Brain Male	brain
23	chr11:65770600-65773800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr11:65770800-65771200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:65770800-65771200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr11:65770800-65771200	Enhancers	Primary B cells from cord blood	blood
27	chr11:65770800-65771200	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr11:65770800-65771200	Genic enhancers	Primary T cells from cord blood	blood
29	chr11:65770800-65771200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
30	chr11:65770800-65771200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr11:65770800-65771200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:65770800-65771200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr11:65770800-65771200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr11:65770800-65771200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:65770800-65771200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:65770800-65771200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:65770800-65771200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:65770800-65771200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:65770800-65771200	Genic enhancers	Esophagus	oesophagus
40	chr11:65770800-65771200	Enhancers	Fetal Heart	heart
41	chr11:65770800-65771200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
42	chr11:65770800-65771200	Genic enhancers	Fetal Lung	lung
43	chr11:65770800-65771200	Genic enhancers	Placenta	Placenta
44	chr11:65770800-65771200	Enhancers	Ovary	ovary
45	chr11:65770800-65771200	Flanking Active TSS	Pancreas	Pancrea
46	chr11:65770800-65771200	Flanking Active TSS	Psoas Muscle	Psoas
47	chr11:65770800-65771200	Enhancers	Right Atrium	heart
48	chr11:65770800-65771200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
49	chr11:65770800-65771200	Flanking Active TSS	HepG2	liver
50	chr11:65770800-65771400	Genic enhancers	Primary T cells fromperipheralblood	blood

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