Variant report

Variant	rs7938316
Chromosome Location	chr11:10472064-10472065
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	SIN3A	chr11:10471753-10472989	H1-hESC	embryonic stem cell:	n/a	chr11:10472336-10472347 chr11:10472611-10472624
2	MAX	chr11:10471558-10473023	H1-hESC	embryonic stem cell:	n/a	chr11:10472180-10472190
3	TCF7L2	chr11:10471991-10472982	HCT-116	colon:	n/a	n/a
4	ELF1	chr11:10471932-10473080	GM12878	blood:	n/a	chr11:10472784-10472796 chr11:10472800-10472812 chr11:10472358-10472370
5	POLR2A	chr11:10471611-10473084	NB4	blood:	n/a	n/a
6	GABPA	chr11:10471817-10472952	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:10471580-10473030	GM12892	blood:	n/a	n/a
8	E2F6	chr11:10471559-10473053	H1-hESC	embryonic stem cell:	n/a	chr11:10472101-10472111 chr11:10472250-10472259 chr11:10472295-10472310
9	POLR2A	chr11:10471832-10473025	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:10472024-10472411	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:10471829-10472954	HCT-116	colon:	n/a	n/a
12	POLR2A	chr11:10471671-10472975	MCF-7	breast:	n/a	n/a
13	POLR2A	chr11:10471520-10472415	HL-60	blood:	n/a	n/a
14	USF1	chr11:10471619-10472070	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:10472038-10472443	GM12878	blood:	n/a	n/a
16	MAX	chr11:10471577-10473019	H1-hESC	embryonic stem cell:	n/a	chr11:10472180-10472190
17	E2F6	chr11:10472015-10473003	H1-hESC	embryonic stem cell:	n/a	chr11:10472101-10472111 chr11:10472250-10472259 chr11:10472295-10472310
18	EBF1	chr11:10472005-10472322	GM12878	blood:	n/a	n/a
19	CTBP2	chr11:10471474-10472989	H1-hESC	embryonic stem cell:	n/a	n/a
20	YY1	chr11:10471998-10472458	GM12892	blood:	n/a	chr11:10472250-10472264 chr11:10472151-10472165 chr11:10472250-10472259
21	CTCF	chr11:10472000-10472150	GM12870	blood:	n/a	n/a
22	POLR2A	chr11:10471925-10473050	GM12892	blood:	n/a	n/a
23	POLR2A	chr11:10472039-10472894	ECC-1	luminal epithelium:	n/a	n/a
24	CTCF	chr11:10471980-10472130	NHEK	skin:	n/a	n/a
25	POLR2A	chr11:10471992-10472949	GM18505	blood:	n/a	n/a
26	POLR2A	chr11:10471927-10473052	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr11:10471592-10472826	NB4	blood:	n/a	chr11:10472180-10472190

No.	Distal block	Cell Line	Cell type
1	chr11:10470733..10474944-chr11:10476648..10480616,5	MCF-7	breast:
2	chr11:10471184..10472852-chr11:10561290..10564176,2	K562	blood:
3	chr11:10469398..10472547-chr11:10473380..10477623,4	K562	blood:
4	chr11:10428535..10430173-chr11:10471249..10473167,2	MCF-7	breast:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000133805	Chromatin interaction
ENSG00000177112	Chromatin interaction
ENSG00000110315	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11042811	0.95[ASN][1000 genomes]
rs11042812	0.95[ASN][1000 genomes]
rs11602632	0.92[ASN][1000 genomes]
rs11604780	0.90[ASN][1000 genomes]
rs11604833	0.93[ASN][1000 genomes]
rs11604838	0.93[ASN][1000 genomes]
rs11605232	0.81[ASN][1000 genomes]
rs11606703	0.93[ASN][1000 genomes]
rs2071020	0.93[ASN][1000 genomes]
rs6484290	0.94[ASN][1000 genomes]
rs7111970	0.93[ASN][1000 genomes]
rs7112321	0.95[ASN][1000 genomes]
rs7929999	0.94[ASN][1000 genomes]
rs899010	0.93[ASN][1000 genomes]
rs936513	0.90[ASN][1000 genomes]
rs9971562	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv896990	chr11:10458596-10514707	Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3370994	chr11:10471201-10473749	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10471200-10472200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr11:10471200-10472800	Active TSS	Brain Substantia Nigra	brain
3	chr11:10471400-10472200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr11:10471400-10472200	Enhancers	Lung	lung
5	chr11:10471400-10472200	Enhancers	Spleen	Spleen
6	chr11:10471400-10472200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr11:10471400-10473000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr11:10471400-10473600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:10471600-10472200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:10471600-10472200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr11:10471600-10472200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:10471600-10472200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr11:10471600-10472600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:10471600-10472600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr11:10471600-10472800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr11:10471600-10472800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr11:10471600-10472800	Active TSS	Brain Cingulate Gyrus	brain
18	chr11:10471600-10472800	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr11:10471600-10472800	Active TSS	Osteobl	bone
20	chr11:10471600-10473000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr11:10471600-10473200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr11:10471600-10473200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:10471600-10473200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:10471600-10473200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr11:10471600-10474000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr11:10471800-10472200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:10471800-10472200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:10471800-10472200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:10471800-10472200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:10471800-10472200	Flanking Active TSS	Placenta	Placenta
31	chr11:10471800-10472400	Active TSS	Liver	Liver
32	chr11:10471800-10472600	Active TSS	Brain Anterior Caudate	brain
33	chr11:10471800-10472600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr11:10471800-10472600	Bivalent/Poised TSS	Fetal Stomach	stomach
35	chr11:10471800-10472800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr11:10471800-10472800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:10471800-10472800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:10471800-10472800	Active TSS	Brain Hippocampus Middle	brain
39	chr11:10471800-10472800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
40	chr11:10471800-10472800	Flanking Active TSS	Right Ventricle	heart
41	chr11:10471800-10473000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:10471800-10473000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr11:10471800-10473000	Active TSS	Gastric	stomach
44	chr11:10471800-10473000	Active TSS	Rectal Smooth Muscle	rectum
45	chr11:10471800-10473200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr11:10471800-10473200	Flanking Active TSS	HMEC	breast
47	chr11:10471800-10473400	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr11:10471800-10474400	Flanking Active TSS	NHEK	skin
49	chr11:10472000-10472200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:10472000-10472200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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