Variant report

Variant	rs7603721
Chromosome Location	chr2:182776653-182776654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:182776334-182777227	HCT-116	colon:	n/a	n/a
2	POLR2A	chr2:182776430-182776938	HCT-116	colon:	n/a	n/a
3	POLR2A	chr2:182776358-182777186	MCF-7	breast:	n/a	n/a
4	POLR2A	chr2:182776414-182777011	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr2:182776547-182776875	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr2:182774652-182777178	K562	blood:	n/a	n/a
7	POLR2A	chr2:182776502-182777457	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:182772726..182775028-chr2:182775519..182777736,2	K562	blood:
2	chr2:182616188..182619083-chr2:182775536..182777144,2	MCF-7	breast:
3	chr2:182772464..182776872-chr2:182781009..182784749,5	K562	blood:
4	chr2:182775471..182777570-chr2:182926943..182929743,2	MCF-7	breast:
5	chr2:182775265..182779288-chr2:182885219..182887763,3	MCF-7	breast:
6	chr2:182775981..182777608-chr2:182777647..182779406,3	K562	blood:

No data

Variant related genes	Relation type
SSFA2	TF binding region
ENSG00000138434	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10165936	1.00[CEU][hapmap]
rs10166975	0.80[EUR][1000 genomes]
rs10173114	1.00[CEU][hapmap]
rs10176061	1.00[CEU][hapmap]
rs10176613	1.00[CEU][hapmap]
rs10176757	1.00[CEU][hapmap]
rs10179363	1.00[CEU][hapmap]
rs10179547	1.00[CEU][hapmap]
rs10189187	0.84[EUR][1000 genomes]
rs10191082	0.80[EUR][1000 genomes]
rs10197254	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10199645	1.00[CEU][hapmap]
rs10200243	1.00[CEU][hapmap]
rs10201303	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10210215	1.00[CEU][hapmap]
rs10221891	1.00[CEU][hapmap]
rs13389121	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13401364	0.84[EUR][1000 genomes]
rs13404156	1.00[CEU][hapmap]
rs13425734	1.00[CEU][hapmap]
rs1528024	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs1528025	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs1528026	0.80[EUR][1000 genomes]
rs1528027	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs16867498	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs16867509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17456384	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881158	1.00[CEU][hapmap]
rs1881159	1.00[CEU][hapmap]
rs2059702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2303554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2368224	1.00[CEU][hapmap]
rs2368235	0.84[EUR][1000 genomes]
rs3731693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3815877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3815878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4597477	0.80[EUR][1000 genomes]
rs55732891	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55758877	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433943	1.00[CEU][hapmap]
rs6707164	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs6707654	0.80[EUR][1000 genomes]
rs6720109	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs6720702	1.00[CEU][hapmap]
rs6723011	0.80[EUR][1000 genomes]
rs6735322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6736341	0.80[EUR][1000 genomes]
rs6736766	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs6739707	0.80[EUR][1000 genomes]
rs6744556	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748354	1.00[CEU][hapmap]
rs6751464	0.80[EUR][1000 genomes]
rs6751685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754819	0.80[EUR][1000 genomes]
rs6755017	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73032623	0.84[EUR][1000 genomes]
rs7557969	1.00[CEU][hapmap]
rs7562680	1.00[CEU][hapmap]
rs7563333	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7580410	1.00[CEU][hapmap]
rs7606321	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7608942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9807949	1.00[CEU][hapmap]
rs9808112	1.00[CEU][hapmap]

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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182757800-182779400	Weak transcription	Esophagus	oesophagus
2	chr2:182757800-182779800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:182757800-182790400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:182758000-182780000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:182758000-182783200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:182758200-182779800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:182758200-182780200	Weak transcription	Brain Germinal Matrix	brain
8	chr2:182759200-182783800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:182759600-182779600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:182759600-182782000	Strong transcription	HSMM	muscle
11	chr2:182759800-182789400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:182760000-182794800	Strong transcription	Fetal Thymus	thymus
13	chr2:182760800-182777000	Strong transcription	Osteobl	bone
14	chr2:182760800-182787000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:182761400-182779400	Weak transcription	Fetal Stomach	stomach
16	chr2:182761400-182795800	Strong transcription	Placenta	Placenta
17	chr2:182762000-182779400	Weak transcription	Aorta	Aorta
18	chr2:182762000-182780000	Weak transcription	Fetal Heart	heart
19	chr2:182764600-182786600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:182765000-182779000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:182765200-182779200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:182765200-182779400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:182765200-182779400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:182765200-182780400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr2:182765400-182779200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:182766000-182778400	Weak transcription	Fetal Brain Male	brain
27	chr2:182767000-182779800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:182767200-182779000	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:182767200-182783200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:182767600-182779000	Weak transcription	Fetal Brain Female	brain
31	chr2:182767600-182780000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:182767800-182778800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:182767800-182779400	Weak transcription	Gastric	stomach
34	chr2:182768000-182779000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr2:182768000-182779000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:182768000-182779000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:182768000-182779000	Weak transcription	Thymus	Thymus
38	chr2:182768000-182779000	Strong transcription	NH-A	brain
39	chr2:182768000-182779400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:182768000-182779600	Weak transcription	Ovary	ovary
41	chr2:182768000-182780000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:182768200-182778000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:182768200-182778800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:182768200-182779000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:182768200-182779600	Weak transcription	Lung	lung
46	chr2:182768200-182779600	Weak transcription	Psoas Muscle	Psoas
47	chr2:182768200-182787800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr2:182768400-182779200	Weak transcription	Primary B cells from cord blood	blood
49	chr2:182768400-182779800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:182768800-182778800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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