Variant report

Variant	rs10201303
Chromosome Location	chr2:182676334-182676335
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:39150707..39151591-chr2:182675899..182676399,2	NB4	blood:
2	chr2:182653727..182657745-chr2:182674412..182677081,4	MCF-7	breast:
3	chr2:182675680..182677290-chr2:182677371..182678893,2	MCF-7	breast:
4	chr2:182674401..182676353-chr2:182754991..182757437,2	MCF-7	breast:
5	chr2:182674418..182676903-chr2:182677977..182680829,2	K562	blood:

Variant related genes	Relation type
ENSG00000138434	Chromatin interaction
ENSG00000260742	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10165936	1.00[CEU][hapmap]
rs10166812	0.85[JPT][hapmap]
rs10166975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10167581	0.82[YRI][hapmap]
rs10171629	0.81[AFR][1000 genomes]
rs10173114	1.00[CEU][hapmap]
rs10176061	1.00[CEU][hapmap]
rs10176613	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap]
rs10176757	1.00[CEU][hapmap]
rs10179363	1.00[CEU][hapmap]
rs10179547	1.00[CEU][hapmap]
rs10189187	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10191082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199645	1.00[CEU][hapmap]
rs10200243	1.00[CEU][hapmap]
rs10203440	0.81[AFR][1000 genomes]
rs10210215	1.00[CEU][hapmap]
rs10221891	1.00[CEU][hapmap]
rs13391733	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13396152	0.85[AFR][1000 genomes]
rs13401364	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425734	1.00[CEU][hapmap]
rs1528024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528026	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867509	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17456384	0.87[EUR][1000 genomes]
rs1881158	1.00[CEU][hapmap]
rs1881159	1.00[CEU][hapmap]
rs2059702	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2288330	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2303554	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2368224	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap]
rs2368235	0.92[EUR][1000 genomes]
rs3731693	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs3815877	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs3815878	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4597477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55732891	0.84[EUR][1000 genomes]
rs55758877	0.87[EUR][1000 genomes]
rs6433943	1.00[CEU][hapmap]
rs6707164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6720109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720702	1.00[CEU][hapmap]
rs6723011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735322	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6736341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6739707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6744556	0.84[EUR][1000 genomes]
rs6748354	1.00[CEU][hapmap]
rs6751464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751685	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6754192	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6754819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755017	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs73032623	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557969	1.00[CEU][hapmap]
rs7562680	1.00[CEU][hapmap]
rs7580410	1.00[CEU][hapmap]
rs7600976	0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs7603721	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7608942	1.00[CEU][hapmap]
rs9807949	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][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	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182671000-182678400	Weak transcription	Aorta	Aorta
2	chr2:182671200-182678800	Weak transcription	NHLF	lung
3	chr2:182671200-182682600	Weak transcription	Fetal Stomach	stomach
4	chr2:182674200-182678800	Weak transcription	Small Intestine	intestine
5	chr2:182675200-182676400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:182675200-182676800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:182675200-182678000	Enhancers	NHEK	skin
8	chr2:182675200-182680200	Enhancers	Dnd41	blood
9	chr2:182675400-182676600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:182675400-182676800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:182675400-182676800	Enhancers	Fetal Intestine Large	intestine
12	chr2:182675400-182677000	Enhancers	HSMM	muscle
13	chr2:182675400-182677400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:182675400-182677600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:182675400-182679000	Enhancers	HMEC	breast
16	chr2:182675400-182679200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:182675400-182679200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:182675400-182680000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr2:182675600-182676600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:182675600-182676800	Enhancers	Placenta	Placenta
21	chr2:182675600-182677200	Enhancers	Fetal Kidney	kidney
22	chr2:182675600-182677400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:182675600-182677400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:182675600-182677400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:182675800-182676400	Enhancers	Primary T cells from cord blood	blood
26	chr2:182675800-182676400	Flanking Active TSS	HUVEC	blood vessel
27	chr2:182675800-182676800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:182675800-182676800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:182675800-182676800	Enhancers	Pancreas	Pancrea
30	chr2:182675800-182676800	Enhancers	Stomach Mucosa	stomach
31	chr2:182675800-182677200	Enhancers	Fetal Intestine Small	intestine
32	chr2:182675800-182677400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:182675800-182677800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:182675800-182678000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr2:182676000-182676400	Enhancers	HepG2	liver
36	chr2:182676000-182676400	Enhancers	K562	blood
37	chr2:182676000-182676800	Enhancers	Left Ventricle	heart
38	chr2:182676000-182676800	Enhancers	Lung	lung
39	chr2:182676000-182677200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:182676000-182677200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:182676000-182677200	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:182676000-182677400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:182676000-182677400	Enhancers	Primary hematopoietic stem cells	blood
44	chr2:182676000-182677400	Enhancers	HSMMtube	muscle
45	chr2:182676000-182678600	Weak transcription	Fetal Lung	lung
46	chr2:182676000-182678800	Weak transcription	NHDF-Ad	bronchial
47	chr2:182676000-182680400	Enhancers	Fetal Thymus	thymus
48	chr2:182676200-182676400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr2:182676200-182676800	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr2:182676200-182676800	Weak transcription	Placenta Amnion	Placenta Amnion

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