Variant report

Variant	rs17885946
Chromosome Location	chr11:102194692-102194693
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	POLR2A	chr11:102194454-102194873	MCF10A-Er-Src	breast:	n/a	n/a
2	YY1	chr11:102194607-102195090	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr11:102194609-102197505	MCF10A-Er-Src	breast:	n/a	n/a
4	PBX3	chr11:102194569-102195122	SK-N-SH	brain:	n/a	n/a
5	TCF12	chr11:102194444-102195128	SK-N-SH	brain:	n/a	n/a
6	NFIC	chr11:102194451-102195150	SK-N-SH	brain:	n/a	n/a
7	FOS	chr11:102194613-102195015	MCF10A-Er-Src	breast:	n/a	chr11:102194824-102194835 chr11:102194825-102194834
8	JUND	chr11:102194493-102194847	HepG2	liver:	n/a	chr11:102194824-102194835 chr11:102194825-102194834
9	STAT3	chr11:102194653-102194878	MCF10A-Er-Src	breast:	n/a	chr11:102194738-102194749
10	TCF7L2	chr11:102194436-102194946	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr11:102194523-102194915	A549	lung:	n/a	chr11:102194730-102194741 chr11:102194728-102194741
12	EP300	chr11:102194459-102195129	SK-N-SH	brain:	n/a	chr11:102195001-102195011 chr11:102194750-102194760
13	POLR2A	chr11:102194634-102194992	SK-N-SH	brain:	n/a	n/a
14	EP300	chr11:102194375-102195063	Hela-S3	cervix:	n/a	chr11:102195001-102195011 chr11:102194750-102194760
15	RCOR1	chr11:102194393-102195157	Hela-S3	cervix:	n/a	n/a
16	FOS	chr11:102194636-102194963	MCF10A-Er-Src	breast:	n/a	chr11:102194824-102194835 chr11:102194825-102194834
17	ELK4	chr11:102194300-102194988	Hela-S3	cervix:	n/a	n/a
18	TCF12	chr11:102194536-102195160	SK-N-SH	brain:	n/a	n/a
19	MAFK	chr11:102194320-102195173	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:102194634-102198499	GM12891	blood:	n/a	n/a
21	FOSL2	chr11:102194484-102195141	SK-N-SH	brain:	n/a	chr11:102194824-102194835 chr11:102194825-102194834
22	JUND	chr11:102194536-102195133	SK-N-SH	brain:	n/a	chr11:102194824-102194835 chr11:102194825-102194834
23	E2F4	chr11:102194657-102194882	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:102194685-102196432	PANC-1	pancreas:	n/a	n/a
25	PBX3	chr11:102194610-102195075	SK-N-SH	brain:	n/a	n/a
26	STAT3	chr11:102194533-102194866	MCF10A-Er-Src	breast:	n/a	chr11:102194738-102194749
27	TEAD4	chr11:102194487-102195029	SK-N-SH	brain:	n/a	n/a
28	JUND	chr11:102194476-102195044	SK-N-SH	brain:	n/a	chr11:102194824-102194835 chr11:102194825-102194834
29	CEBPB	chr11:102194526-102194934	IMR90	lung:	n/a	chr11:102194730-102194741 chr11:102194728-102194741
30	GATA3	chr11:102194516-102195132	SK-N-SH	brain:	n/a	chr11:102194826-102194835
31	RFX5	chr11:102194305-102195096	Hela-S3	cervix:	n/a	n/a
32	JUND	chr11:102194348-102195073	Hela-S3	cervix:	n/a	chr11:102194824-102194835 chr11:102194825-102194834 chr11:102194352-102194364
33	BRCA1	chr11:102193413-102195094	Hela-S3	cervix:	n/a	n/a
34	FOS	chr11:102194580-102194957	MCF10A-Er-Src	breast:	n/a	chr11:102194824-102194835 chr11:102194825-102194834
35	JUND	chr11:102194477-102195106	SK-N-SH	brain:	n/a	chr11:102194824-102194835 chr11:102194825-102194834
36	CEBPB	chr11:102194465-102195051	A549	lung:	n/a	chr11:102194730-102194741 chr11:102194728-102194741
37	JUN	chr11:102194324-102195134	Hela-S3	cervix:	n/a	chr11:102194824-102194835 chr11:102194825-102194834 chr11:102194352-102194364 chr11:102194592-102194605
38	CEBPB	chr11:102194238-102195063	Hela-S3	cervix:	n/a	chr11:102194730-102194741 chr11:102194302-102194315 chr11:102194728-102194741
39	FOSL2	chr11:102194551-102195070	A549	lung:	n/a	chr11:102194824-102194835 chr11:102194825-102194834
40	STAT3	chr11:102194488-102194979	Hela-S3	cervix:	n/a	chr11:102194738-102194749
41	GATA3	chr11:102194445-102195085	SK-N-SH	brain:	n/a	chr11:102194826-102194835
42	STAT3	chr11:102194564-102194919	MCF10A-Er-Src	breast:	n/a	chr11:102194738-102194749
43	JUN	chr11:102194438-102194724	HepG2	liver:	n/a	chr11:102194592-102194605
44	POLR2A	chr11:102186664-102199529	GM12878	blood:	n/a	n/a
45	FOS	chr11:102194610-102194989	MCF10A-Er-Src	breast:	n/a	chr11:102194824-102194835 chr11:102194825-102194834
46	POLR2A	chr11:102194556-102198251	GM12878	blood:	n/a	n/a
47	FOSL2	chr11:102194540-102194968	SK-N-SH	brain:	n/a	chr11:102194824-102194835 chr11:102194825-102194834
48	FOSL2	chr11:102194677-102194988	A549	lung:	n/a	chr11:102194824-102194835 chr11:102194825-102194834
49	MYC	chr11:102194682-102194875	MCF10A-Er-Src	breast:	n/a	chr11:102194824-102194833

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102188098..102191031-chr11:102194628..102197426,3	MCF-7	breast:

Variant related genes	Relation type
BIRC3	TF binding region
ENSG00000023445	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10750636	1.00[EUR][1000 genomes]
rs10791567	1.00[EUR][1000 genomes]
rs10791568	1.00[EUR][1000 genomes]
rs1894117	1.00[EUR][1000 genomes]
rs1942682	1.00[EUR][1000 genomes]
rs1942687	1.00[EUR][1000 genomes]
rs2187158	1.00[EUR][1000 genomes]
rs4754835	1.00[EUR][1000 genomes]
rs4754837	1.00[EUR][1000 genomes]
rs60801984	1.00[EUR][1000 genomes]
rs6590951	1.00[EUR][1000 genomes]
rs7110639	1.00[EUR][1000 genomes]
rs7924931	1.00[EUR][1000 genomes]
rs7931810	1.00[EUR][1000 genomes]

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	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv556142	chr11:102192574-102202015	Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102188800-102216600	Weak transcription	HSMMtube	muscle
2	chr11:102189200-102197600	Weak transcription	Fetal Intestine Small	intestine
3	chr11:102189400-102197400	Weak transcription	Adipose Nuclei	Adipose
4	chr11:102189400-102205800	Weak transcription	Psoas Muscle	Psoas
5	chr11:102189400-102216600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:102189400-102216800	Weak transcription	Right Ventricle	heart
7	chr11:102189600-102200600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:102189600-102200800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:102189600-102200800	Weak transcription	Left Ventricle	heart
10	chr11:102189800-102196200	Weak transcription	Liver	Liver
11	chr11:102190000-102196400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
12	chr11:102190600-102196000	Enhancers	Hela-S3	cervix
13	chr11:102190600-102197000	Weak transcription	Colonic Mucosa	Colon
14	chr11:102190600-102202800	Weak transcription	Pancreas	Pancrea
15	chr11:102190800-102195400	Weak transcription	Small Intestine	intestine
16	chr11:102191200-102195200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:102191200-102197000	Weak transcription	Gastric	stomach
18	chr11:102191200-102216800	Weak transcription	Aorta	Aorta
19	chr11:102191200-102217400	Weak transcription	Esophagus	oesophagus
20	chr11:102191400-102194800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:102191400-102197000	Weak transcription	Lung	lung
22	chr11:102191600-102195200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr11:102191600-102197000	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:102191600-102197000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr11:102191600-102202600	Weak transcription	Stomach Mucosa	stomach
26	chr11:102191600-102216600	Weak transcription	Brain Anterior Caudate	brain
27	chr11:102191800-102195200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:102191800-102195600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr11:102191800-102197000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:102191800-102197000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:102191800-102200800	Weak transcription	Spleen	Spleen
32	chr11:102191800-102212600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr11:102192400-102194800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:102192800-102195000	Enhancers	NHLF	lung
35	chr11:102192800-102195400	Enhancers	Osteobl	bone
36	chr11:102192800-102195600	Enhancers	NHDF-Ad	bronchial
37	chr11:102192800-102196000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr11:102192800-102198200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr11:102192800-102198400	Genic enhancers	Primary B cells from peripheral blood	blood
40	chr11:102193000-102195400	Weak transcription	Fetal Thymus	thymus
41	chr11:102193000-102196000	Enhancers	NHEK	skin
42	chr11:102193200-102194800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:102193200-102194800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:102193200-102197200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:102193200-102203200	Weak transcription	Ovary	ovary
46	chr11:102193400-102194800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr11:102193400-102195200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:102193400-102195600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:102193600-102195000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:102193600-102195000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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