Variant report

Variant	rs16987379
Chromosome Location	chr2:20306909-20306910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr2:20306455-20306918	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr2:20306336-20307012	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr2:20306486-20307007	ECC-1	luminal epithelium:	n/a	n/a
4	GABPA	chr2:20306549-20306917	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr2:20306760-20306910	GM12873	blood:	n/a	n/a
6	HA-E2F1	chr2:20306410-20306928	MCF-7	breast:	n/a	n/a
7	POLR2A	chr2:20306562-20306956	HUVEC	blood vessel:	n/a	n/a
8	E2F6	chr2:20306353-20306988	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr2:20306387-20306916	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr2:20306412-20307015	MCF-7	breast:	n/a	n/a
11	MAX	chr2:20306324-20307029	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr2:20306718-20306936	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr2:20306446-20306918	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr2:20306268-20306937	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr2:20306313-20307006	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr2:20306587-20306971	K562	blood:	n/a	n/a
17	CTCF	chr2:20306467-20306909	MCF-7	breast:	n/a	n/a
18	MAX	chr2:20306307-20307017	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr2:20306358-20306967	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20306634..20307462-chr2:20390804..20391353,2	MCF-7	breast:
2	chr2:20299695..20307724-chr2:20421846..20426859,15	MCF-7	breast:
3	chr2:20306020..20309024-chr2:20421635..20424090,4	MCF-7	breast:
4	chr2:20306351..20307044-chr2:20424834..20425592,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234378	TF binding region
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13022175	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56097005	0.82[ASN][1000 genomes]
rs62112178	0.81[ASN][1000 genomes]
rs73919270	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7578149	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7582437	0.88[YRI][hapmap]
rs7585046	0.89[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs907864	0.88[YRI][hapmap]

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20298400-20307800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:20303600-20307000	Enhancers	Esophagus	oesophagus
3	chr2:20304800-20308600	Weak transcription	Liver	Liver
4	chr2:20305200-20307200	Weak transcription	HepG2	liver
5	chr2:20305200-20308600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:20305800-20310200	Weak transcription	Gastric	stomach
7	chr2:20306000-20308600	Weak transcription	Stomach Mucosa	stomach
8	chr2:20306200-20307000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr2:20306200-20307000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr2:20306200-20307000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:20306200-20307000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:20306200-20307000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:20306200-20307000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
14	chr2:20306200-20307000	Active TSS	NHEK	skin
15	chr2:20306200-20307200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr2:20306200-20307400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr2:20306400-20307000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr2:20306400-20307000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:20306400-20307000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr2:20306400-20307000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr2:20306400-20307000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:20306400-20307000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:20306400-20307000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr2:20306400-20307000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr2:20306400-20307000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:20306400-20307000	Active TSS	Duodenum Mucosa	Duodenum
27	chr2:20306400-20307000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr2:20306400-20307000	Active TSS	Fetal Intestine Small	intestine
29	chr2:20306400-20307000	Active TSS	Left Ventricle	heart
30	chr2:20306400-20307000	Active TSS	Pancreas	Pancrea
31	chr2:20306400-20307000	Flanking Active TSS	HMEC	breast
32	chr2:20306400-20307000	Active TSS	NHLF	lung
33	chr2:20306400-20307000	Active TSS	Osteobl	bone
34	chr2:20306400-20307200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr2:20306600-20307000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
36	chr2:20306600-20307000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:20306600-20307000	Active TSS	Brain Angular Gyrus	brain
38	chr2:20306600-20307600	Weak transcription	NHDF-Ad	bronchial
39	chr2:20306600-20318400	Enhancers	Placenta	Placenta
40	chr2:20306800-20307000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr2:20306800-20307000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:20306800-20307000	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr2:20306800-20307000	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr2:20306800-20307000	Bivalent Enhancer	Fetal Stomach	stomach
45	chr2:20306800-20307000	Flanking Active TSS	HUVEC	blood vessel
46	chr2:20306800-20307600	Enhancers	Fetal Lung	lung
47	chr2:20306800-20311200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:20306800-20318200	Weak transcription	Right Ventricle	heart

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