Variant report

Variant	rs73914805
Chromosome Location	chr2:10861182-10861183
allele	G/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	TCF12	chr2:10861037-10861427	H1-hESC	embryonic stem cell:	n/a	chr2:10861333-10861340
2	CTBP2	chr2:10861072-10861696	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF12	chr2:10861119-10861300	GM12878	blood:	n/a	n/a
4	TCF12	chr2:10861161-10861447	GM12878	blood:	n/a	chr2:10861333-10861340
5	TCF12	chr2:10860994-10861627	ECC-1	luminal epithelium:	n/a	chr2:10861333-10861340
6	MAX	chr2:10861058-10862108	ECC-1	luminal epithelium:	n/a	chr2:10861886-10861896 chr2:10861661-10861671
7	NRF1	chr2:10861163-10861287	H1-hESC	embryonic stem cell:	n/a	n/a
8	TCF3	chr2:10861130-10861656	GM12878	blood:	n/a	chr2:10861266-10861281 chr2:10861269-10861278 chr2:10861622-10861632 chr2:10861296-10861310 chr2:10861273-10861289
9	ZBTB7A	chr2:10861015-10862347	ECC-1	luminal epithelium:	n/a	n/a
10	ZBTB7A	chr2:10861034-10862317	ECC-1	luminal epithelium:	n/a	n/a
11	SIN3A	chr2:10861140-10861330	H1-hESC	embryonic stem cell:	n/a	chr2:10861210-10861221
12	ZEB1	chr2:10861130-10861410	GM12878	blood:	n/a	chr2:10861275-10861284 chr2:10861255-10861264 chr2:10861276-10861287
13	TCF12	chr2:10861123-10861407	H1-hESC	embryonic stem cell:	n/a	chr2:10861333-10861340
14	ZEB1	chr2:10861011-10861577	GM12878	blood:	n/a	chr2:10861275-10861284 chr2:10861255-10861264 chr2:10861276-10861287
15	MAX	chr2:10861064-10862236	ECC-1	luminal epithelium:	n/a	chr2:10861886-10861896 chr2:10861661-10861671

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10857464..10859699-chr2:10860592..10863283,2	MCF-7	breast:
2	chr2:10828658..10831241-chr2:10859513..10862984,4	MCF-7	breast:

Variant related genes	Relation type
ATP6V1C2	TF binding region
ENSG00000115761	Chromatin interaction
ENSG00000236162	Chromatin interaction
ENSG00000243819	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16855524	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73914804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73914806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73914808	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73917910	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10858000-10861400	Weak transcription	Aorta	Aorta
2	chr2:10860200-10861200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:10860200-10861200	Bivalent Enhancer	Placenta	Placenta
4	chr2:10860200-10861200	Enhancers	HSMMtube	muscle
5	chr2:10860400-10862600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
6	chr2:10860600-10861200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:10860600-10861400	Bivalent Enhancer	HMEC	breast
8	chr2:10860600-10861800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:10860800-10861200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
10	chr2:10860800-10861200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr2:10860800-10861200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
12	chr2:10860800-10861400	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr2:10860800-10862000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
14	chr2:10860800-10862600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr2:10860800-10862600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
16	chr2:10861000-10861200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr2:10861000-10861200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:10861000-10861200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:10861000-10861200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
20	chr2:10861000-10861200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
21	chr2:10861000-10861200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
22	chr2:10861000-10861200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:10861000-10861200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:10861000-10861200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:10861000-10861200	Bivalent Enhancer	Liver	Liver
26	chr2:10861000-10861200	Bivalent Enhancer	Fetal Intestine Small	intestine
27	chr2:10861000-10861200	Bivalent Enhancer	Fetal Thymus	thymus
28	chr2:10861000-10861200	Enhancers	Pancreas	Pancrea
29	chr2:10861000-10861200	Bivalent Enhancer	GM12878-XiMat	blood
30	chr2:10861000-10861400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
31	chr2:10861000-10861400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
32	chr2:10861000-10861600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:10861000-10861600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr2:10861000-10861600	Bivalent Enhancer	Fetal Heart	heart
35	chr2:10861000-10861600	Flanking Bivalent TSS/Enh	NHEK	skin
36	chr2:10861000-10861800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr2:10861000-10861800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
38	chr2:10861000-10861800	Bivalent Enhancer	Fetal Brain Male	brain
39	chr2:10861000-10861800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr2:10861000-10862000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:10861000-10862000	Bivalent/Poised TSS	Esophagus	oesophagus
42	chr2:10861000-10862000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
43	chr2:10861000-10862200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:10861000-10862200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
45	chr2:10861000-10862400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
46	chr2:10861000-10862400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr2:10861000-10862400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:10861000-10862600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
49	chr2:10861000-10862600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
50	chr2:10861000-10862600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain

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