Variant report

Variant	rs7951395
Chromosome Location	chr11:108604586-108604587
allele	C/G
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	chr11:108604116-108604803	GM12892	blood:	n/a	n/a
2	FOS	chr11:108604345-108604702	MCF10A-Er-Src	breast:	n/a	chr11:108604522-108604530 chr11:108604520-108604531 chr11:108604521-108604531 chr11:108604522-108604530 chr11:108604521-108604531 chr11:108604523-108604530 chr11:108604521-108604531 chr11:108604521-108604531
3	BCL11A	chr11:108604131-108604735	GM12878	blood:	n/a	chr11:108604424-108604433
4	FOXM1	chr11:108603864-108604916	GM12878	blood:	n/a	n/a
5	RUNX3	chr11:108603939-108604795	GM12878	blood:	n/a	n/a
6	SP1	chr11:108604101-108604672	GM12878	blood:	n/a	n/a
7	REST	chr11:108604232-108604754	PFSK-1	brain:	n/a	n/a
8	FOS	chr11:108604323-108604648	MCF10A-Er-Src	breast:	n/a	chr11:108604522-108604530 chr11:108604520-108604531 chr11:108604521-108604531 chr11:108604522-108604530 chr11:108604521-108604531 chr11:108604523-108604530 chr11:108604521-108604531 chr11:108604521-108604531
9	NFATC1	chr11:108604010-108604933	GM12878	blood:	n/a	n/a
10	NFIC	chr11:108603955-108604892	GM12878	blood:	n/a	n/a
11	PAX5	chr11:108604012-108604759	GM12878	blood:	n/a	chr11:108604020-108604029 chr11:108604424-108604433
12	EP300	chr11:108604103-108604763	GM12878	blood:	n/a	chr11:108604424-108604438 chr11:108604521-108604530
13	RUNX3	chr11:108603954-108604877	GM12878	blood:	n/a	n/a
14	EBF1	chr11:108604207-108604683	GM12878	blood:	n/a	n/a
15	MAZ	chr11:108604065-108604676	GM12878	blood:	n/a	n/a
16	EBF1	chr11:108604222-108604707	GM12878	blood:	n/a	n/a
17	IRF4	chr11:108604137-108604793	GM12878	blood:	n/a	n/a
18	PAX5	chr11:108604149-108604654	GM12878	blood:	n/a	chr11:108604424-108604433
19	RCOR1	chr11:108604108-108604617	GM12878	blood:	n/a	n/a
20	STAT3	chr11:108604310-108604594	MCF10A-Er-Src	breast:	n/a	n/a
21	ATF2	chr11:108603876-108604844	GM12878	blood:	n/a	n/a
22	NFE2	chr11:108604470-108604669	GM12878	blood:	n/a	n/a
23	BATF	chr11:108604137-108604739	GM12878	blood:	n/a	n/a
24	NFATC1	chr11:108603983-108604660	GM12878	blood:	n/a	n/a
25	SIN3AK20	chr11:108604174-108604608	PFSK-1	brain:	n/a	n/a
26	NFIC	chr11:108603832-108605140	GM12878	blood:	n/a	n/a
27	FOS	chr11:108604333-108604714	HUVEC	blood vessel:	n/a	chr11:108604522-108604530 chr11:108604520-108604531 chr11:108604521-108604531 chr11:108604522-108604530 chr11:108604521-108604531 chr11:108604523-108604530 chr11:108604521-108604531 chr11:108604521-108604531
28	EP300	chr11:108604056-108604919	GM12878	blood:	n/a	chr11:108604424-108604438 chr11:108604521-108604530
29	PML	chr11:108603978-108604919	GM12878	blood:	n/a	chr11:108604523-108604532
30	FOXM1	chr11:108603954-108605080	GM12878	blood:	n/a	n/a
31	POU2F2	chr11:108603976-108604718	GM12878	blood:	n/a	n/a
32	JUND	chr11:108604296-108604675	K562	blood:	n/a	chr11:108604522-108604530 chr11:108604521-108604531 chr11:108604522-108604530 chr11:108604521-108604531 chr11:108604523-108604530 chr11:108604521-108604531 chr11:108604521-108604531
33	YY1	chr11:108604190-108604599	GM12891	blood:	n/a	n/a
34	CREB1	chr11:108603990-108604843	GM12878	blood:	n/a	n/a
35	WRNIP1	chr11:108604197-108604785	GM12878	blood:	n/a	n/a
36	FOSL2	chr11:108604310-108604746	SK-N-SH	brain:	n/a	chr11:108604522-108604530 chr11:108604521-108604531 chr11:108604710-108604724 chr11:108604522-108604530 chr11:108604521-108604531 chr11:108604523-108604530 chr11:108604521-108604531 chr11:108604521-108604531
37	CEBPB	chr11:108603992-108604839	GM12878	blood:	n/a	n/a
38	SPI1	chr11:108603953-108604804	GM12878	blood:	n/a	chr11:108604424-108604433
39	PML	chr11:108604143-108604676	GM12878	blood:	n/a	chr11:108604523-108604532
40	PAX5	chr11:108604149-108604674	GM12878	blood:	n/a	chr11:108604424-108604433
41	STAT5A	chr11:108604066-108604742	GM12878	blood:	n/a	n/a
42	STAT3	chr11:108604348-108604591	MCF10A-Er-Src	breast:	n/a	n/a
43	BCL3	chr11:108604133-108604731	GM12878	blood:	n/a	chr11:108604424-108604433
44	BHLHE40	chr11:108604028-108605058	GM12878	blood:	n/a	n/a
45	TBP	chr11:108604103-108604935	GM12878	blood:	n/a	n/a
46	TAF1	chr11:108604276-108604661	PFSK-1	brain:	n/a	n/a
47	POU2F2	chr11:108604104-108604680	GM12891	blood:	n/a	n/a
48	STAT5A	chr11:108604108-108604664	GM12878	blood:	n/a	n/a
49	MEF2A	chr11:108604114-108604764	GM12878	blood:	n/a	chr11:108604522-108604530
50	ZNF143	chr11:108604277-108604664	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108574670..108576542-chr11:108603354..108604923,2	K562	blood:
2	chr11:108599709..108601627-chr11:108604162..108606701,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254730	TF binding region
ENSG00000254730	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11212756	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11212775	0.84[AFR][1000 genomes]
rs12279185	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12281684	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6589030	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73554972	0.90[AFR][1000 genomes]
rs7929960	0.89[AMR][1000 genomes]
rs7934946	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7939884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7948143	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108578800-108604600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:108578800-108614400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:108581600-108626600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:108581800-108609800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr11:108581800-108610800	Weak transcription	Thymus	Thymus
6	chr11:108581800-108611400	Weak transcription	Brain Substantia Nigra	brain
7	chr11:108581800-108616200	Weak transcription	Esophagus	oesophagus
8	chr11:108583000-108610600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:108583200-108611600	Weak transcription	Fetal Lung	lung
10	chr11:108584800-108605600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:108587200-108608800	Weak transcription	Fetal Stomach	stomach
12	chr11:108589000-108611800	Weak transcription	Fetal Intestine Large	intestine
13	chr11:108591400-108610600	Weak transcription	Fetal Muscle Leg	muscle
14	chr11:108592000-108620000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:108594000-108612800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:108594200-108605600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:108594200-108608400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:108594200-108611400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:108594200-108615400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:108594400-108605000	Weak transcription	Fetal Kidney	kidney
21	chr11:108594400-108613600	Weak transcription	HSMMtube	muscle
22	chr11:108594400-108625400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:108594800-108607600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr11:108596400-108604800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:108596400-108610800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:108596400-108610800	Weak transcription	Dnd41	blood
27	chr11:108596400-108614400	Weak transcription	Right Ventricle	heart
28	chr11:108596400-108621000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr11:108596600-108607200	Weak transcription	Liver	Liver
30	chr11:108599800-108604600	Strong transcription	Primary T cells from cord blood	blood
31	chr11:108600600-108609600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:108601200-108604600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:108603200-108604600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:108603200-108605000	Flanking Active TSS	GM12878-XiMat	blood
35	chr11:108603200-108605800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr11:108603200-108605800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:108603400-108605400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr11:108603400-108607200	Weak transcription	Aorta	Aorta
39	chr11:108603400-108611200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr11:108603600-108607200	Weak transcription	Primary B cells from cord blood	blood
41	chr11:108603600-108607200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:108603600-108607400	Weak transcription	Lung	lung
43	chr11:108603600-108610600	Weak transcription	Gastric	stomach
44	chr11:108603600-108617600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:108603800-108604600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:108603800-108605000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:108603800-108605200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:108604000-108604600	Enhancers	Brain Cingulate Gyrus	brain
49	chr11:108604000-108604600	Enhancers	Right Atrium	heart
50	chr11:108604000-108604600	Enhancers	Sigmoid Colon	Sigmoid Colon

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