Variant report

Variant	rs575415730
Chromosome Location	chr11:47429439-47429440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr11:47429300-47430118	MCF-7	breast:	n/a	n/a
2	CTCF	chr11:47429300-47429450	AG04450	lung:	n/a	n/a
3	CTCF	chr11:47429354-47429493	Hela-S3	cervix:	n/a	n/a
4	MAX	chr11:47429343-47430104	ECC-1	luminal epithelium:	n/a	chr11:47430013-47430023
5	STAT5A	chr11:47429091-47430102	GM12878	blood:	n/a	chr11:47430023-47430035
6	MAZ	chr11:47428435-47431694	IMR90	lung:	n/a	chr11:47430013-47430023 chr11:47428706-47428716
7	BACH1	chr11:47429224-47429812	K562	blood:	n/a	n/a
8	CTCF	chr11:47429340-47429490	GM12864	blood:	n/a	n/a
9	CTCF	chr11:47429400-47429550	GM12872	blood:	n/a	n/a
10	YY1	chr11:47429308-47430244	GM12892	blood:	n/a	chr11:47430194-47430208 chr11:47430196-47430205 chr11:47430037-47430051 chr11:47430193-47430202 chr11:47430199-47430208 chr11:47430193-47430204 chr11:47430199-47430210 chr11:47430196-47430207
11	NFIC	chr11:47429333-47430072	GM12878	blood:	n/a	n/a
12	NRF1	chr11:47428893-47429615	Hela-S3	cervix:	n/a	n/a
13	STAT3	chr11:47429257-47430022	GM12878	blood:	n/a	n/a
14	EP300	chr11:47429396-47430417	ECC-1	luminal epithelium:	n/a	chr11:47430234-47430243 chr11:47430309-47430325 chr11:47430200-47430209 chr11:47429639-47429655 chr11:47429853-47429869 chr11:47430197-47430206 chr11:47430194-47430203
15	RELA	chr11:47429243-47430135	GM19099	blood:	n/a	n/a
16	CHD2	chr11:47429132-47430162	GM12878	blood:	n/a	n/a
17	YY1	chr11:47429356-47430232	GM12878	blood:	n/a	chr11:47430194-47430208 chr11:47430196-47430205 chr11:47430037-47430051 chr11:47430193-47430202 chr11:47430199-47430208 chr11:47430193-47430204 chr11:47430199-47430210 chr11:47430196-47430207
18	SMARCC1	chr11:47428853-47430013	Hela-S3	cervix:	n/a	n/a
19	TCF7L2	chr11:47429286-47430086	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:47428389-47430514	SK-N-MC	brain:	n/a	n/a
21	TAF1	chr11:47429387-47430177	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr11:47428446-47430424	Raji	blood:	n/a	n/a
23	POLR2A	chr11:47429424-47431688	IMR90	lung:	n/a	n/a
24	ARID3A	chr11:47429214-47430056	K562	blood:	n/a	n/a
25	FOSL2	chr11:47429356-47430235	SK-N-SH	brain:	n/a	chr11:47429695-47429705 chr11:47429695-47429705 chr11:47429695-47429705 chr11:47429695-47429705
26	POLR2A	chr11:47429277-47430364	HCT-116	colon:	n/a	n/a
27	IRF1	chr11:47429266-47430154	K562	blood:	n/a	chr11:47429567-47429584
28	FOSL2	chr11:47429326-47430135	A549	lung:	n/a	chr11:47429695-47429705 chr11:47429695-47429705 chr11:47429695-47429705 chr11:47429695-47429705
29	REST	chr11:47429418-47430091	K562	blood:	n/a	chr11:47429890-47429903 chr11:47429890-47429903
30	E2F6	chr11:47429400-47430111	A549	lung:	n/a	chr11:47430009-47430021 chr11:47429763-47429772
31	SIN3AK20	chr11:47429347-47430149	MCF-7	breast:	n/a	n/a
32	MAZ	chr11:47429101-47430433	GM12878	blood:	n/a	chr11:47430013-47430023
33	MXI1	chr11:47429119-47430219	GM12878	blood:	n/a	n/a
34	MAZ	chr11:47428995-47431051	Hela-S3	cervix:	n/a	chr11:47430013-47430023
35	HCFC1	chr11:47428525-47432352	Hela-S3	cervix:	n/a	n/a
36	RELA	chr11:47429148-47430215	GM12891	blood:	n/a	n/a
37	E2F4	chr11:47429383-47430237	K562	blood:	n/a	chr11:47430197-47430207 chr11:47430009-47430021 chr11:47430200-47430210 chr11:47430194-47430204 chr11:47429763-47429772 chr11:47430008-47430019
38	CTCF	chr11:47429339-47430118	GM12878	blood:	n/a	chr11:47429638-47429651
39	RAD21	chr11:47429387-47430083	IMR90	lung:	n/a	n/a
40	CTCF	chr11:47429365-47429504	NHEK	skin:	n/a	n/a
41	EP300	chr11:47429381-47431040	SK-N-SH	brain:	n/a	chr11:47430234-47430243 chr11:47430826-47430842 chr11:47430309-47430325 chr11:47430623-47430639 chr11:47430200-47430209 chr11:47429639-47429655 chr11:47429853-47429869 chr11:47430197-47430206 chr11:47430194-47430203
42	CTCF	chr11:47429369-47429580	K562	blood:	n/a	n/a
43	TEAD4	chr11:47429120-47430230	K562	blood:	n/a	n/a
44	GTF2F1	chr11:47428990-47430091	Hela-S3	cervix:	n/a	n/a
45	IKZF1	chr11:47429289-47429904	GM12878	blood:	n/a	n/a
46	E2F6	chr11:47429389-47430167	K562	blood:	n/a	chr11:47430009-47430021 chr11:47429763-47429772
47	GABPA	chr11:47429226-47430211	A549	lung:	n/a	n/a
48	NFATC1	chr11:47429283-47430115	GM12878	blood:	n/a	n/a
49	TBP	chr11:47429315-47430085	HepG2	liver:	n/a	n/a
50	SREBP2	chr11:47428588-47430400	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47198635..47199333-chr11:47429103..47429994,3	K562	blood:
2	chr11:47411629..47418031-chr11:47425327..47431880,15	K562	blood:
3	chr11:47426650..47429548-chr11:47599829..47602825,2	MCF-7	breast:
4	chr11:47290389..47294105-chr11:47428413..47432863,5	MCF-7	breast:
5	chr11:47428130..47431471-chr11:47462803..47464877,5	MCF-7	breast:
6	chr11:47394067..47402014-chr11:47426765..47432976,19	K562	blood:
7	chr11:47420444..47424832-chr11:47425633..47430159,5	MCF-7	breast:
8	chr11:47427429..47429907-chr11:47430975..47433040,2	MCF-7	breast:
9	chr11:47289845..47291400-chr11:47428671..47431411,2	K562	blood:
10	chr11:47429268..47431582-chr20:56284094..56286955,2	MCF-7	breast:
11	chr11:47419914..47422605-chr11:47427478..47432259,7	K562	blood:
12	chr11:47292200..47292859-chr11:47429308..47429854,2	MCF-7	breast:
13	chr11:47197465..47200418-chr11:47428077..47430700,3	K562	blood:
14	chr11:47280550..47281257-chr11:47428956..47429932,2	K562	blood:
15	chr11:47427968..47429864-chr11:47469091..47470991,2	MCF-7	breast:
16	chr11:47269451..47271860-chr11:47428590..47432270,5	K562	blood:
17	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
18	chr11:47427701..47430001-chr11:47598549..47600381,2	K562	blood:
19	chr11:47429406..47430356-chr6:108881662..108882226,2	HCT-116	colon:

Variant related genes	Relation type
SLC39A13	TF binding region
ENSG00000256746	Chromatin interaction
ENSG00000231880	Chromatin interaction
ENSG00000123444	Chromatin interaction
ENSG00000165917	Chromatin interaction
ENSG00000118689	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000124225	Chromatin interaction
ENSG00000264583	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000213619	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer 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	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic 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	38 gene(s)	inside rSNPs	diseases
8	nsv541034	chr11:47404083-47440081	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
9	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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	55 gene(s)	inside rSNPs	diseases
10	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
11	esv3328586	chr11:47428801-47431349	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	esv3353375	chr11:47429076-47431224	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47428200-47429600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr11:47428400-47429600	Flanking Active TSS	GM12878-XiMat	blood
3	chr11:47428400-47429600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr11:47428400-47429800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr11:47428600-47429600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr11:47428600-47429600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:47428600-47429600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:47428600-47429600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr11:47428600-47429600	Flanking Active TSS	Hela-S3	cervix
10	chr11:47428600-47429800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:47428600-47429800	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr11:47428600-47431200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:47428800-47429600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:47428800-47429600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr11:47428800-47429600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr11:47428800-47429600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:47428800-47429600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:47428800-47429600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:47428800-47429600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:47428800-47429600	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr11:47428800-47429600	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr11:47428800-47429600	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr11:47428800-47429600	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr11:47428800-47429600	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr11:47428800-47429600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr11:47428800-47429600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr11:47428800-47429600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr11:47428800-47429600	Flanking Active TSS	Dnd41	blood
29	chr11:47428800-47429600	Flanking Active TSS	HepG2	liver
30	chr11:47428800-47429600	Flanking Active TSS	K562	blood
31	chr11:47428800-47429600	Flanking Active TSS	NHEK	skin
32	chr11:47428800-47429800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr11:47429000-47429600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:47429000-47429600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:47429000-47429600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:47429000-47429600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:47429000-47429600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr11:47429000-47429600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:47429000-47429600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:47429000-47429600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:47429000-47429600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:47429000-47429600	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr11:47429000-47429600	Flanking Active TSS	Liver	Liver
44	chr11:47429000-47429600	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr11:47429000-47429600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr11:47429000-47429600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr11:47429000-47429600	Flanking Active TSS	Fetal Heart	heart
48	chr11:47429000-47429600	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr11:47429000-47429600	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr11:47429000-47429600	Flanking Active TSS	Fetal Stomach	stomach

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