Variant report

Variant	rs6707164
Chromosome Location	chr2:182671197-182671198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:181845007..181846793-chr2:182669919..182671758,2	K562	blood:
2	chr2:182653773..182656641-chr2:182670969..182672673,2	K562	blood:

Variant related genes	Relation type
ENSG00000170035	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	0.84[JPT][hapmap]
rs10166975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10167581	0.80[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];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10191082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199645	1.00[CEU][hapmap]
rs10200243	1.00[CEU][hapmap]
rs10201303	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]
rs10203440	0.86[LWK][hapmap];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];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13396152	0.86[LWK][hapmap];1.00[MKK][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes]
rs13401364	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[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];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425734	1.00[CEU][hapmap]
rs1528024	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528026	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867509	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17456384	0.84[EUR][1000 genomes]
rs1881158	1.00[CEU][hapmap]
rs1881159	1.00[CEU][hapmap]
rs2059702	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2288330	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2303554	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2368224	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2368235	0.88[EUR][1000 genomes]
rs3731693	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs3815877	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs3815878	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs4597477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55732891	0.80[EUR][1000 genomes]
rs55758877	0.84[EUR][1000 genomes]
rs6433943	1.00[CEU][hapmap]
rs6707654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720702	1.00[CEU][hapmap]
rs6723011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735322	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6736341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736766	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6739707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6744556	0.80[EUR][1000 genomes]
rs6748354	1.00[CEU][hapmap]
rs6751464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751685	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs6754192	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6754819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755017	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[EUR][1000 genomes]
rs73032623	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557969	1.00[CEU][hapmap]
rs7562680	1.00[CEU][hapmap]
rs7580410	1.00[CEU][hapmap]
rs7600976	0.80[YRI][hapmap];0.85[AFR][1000 genomes]
rs7603721	1.00[CEU][hapmap];0.80[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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182668600-182671400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:182668800-182671200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:182669000-182671200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:182669000-182671200	Enhancers	Osteobl	bone
5	chr2:182669200-182675600	Weak transcription	Thymus	Thymus
6	chr2:182669200-182676000	Weak transcription	Lung	lung
7	chr2:182669400-182671200	Enhancers	NH-A	brain
8	chr2:182669400-182675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:182669400-182675600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:182669400-182675600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:182669400-182675800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:182669600-182671200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:182669600-182671200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr2:182669600-182671200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:182669600-182675400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:182669800-182675600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:182670000-182675600	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:182670200-182671200	Enhancers	Fetal Stomach	stomach
19	chr2:182670200-182675800	Weak transcription	Primary T cells from cord blood	blood
20	chr2:182670400-182675200	Weak transcription	NHEK	skin
21	chr2:182670600-182671200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:182670600-182671200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:182670600-182671200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:182670600-182675400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:182670800-182671200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:182670800-182671200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:182670800-182671200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:182670800-182671200	Enhancers	NHLF	lung
29	chr2:182670800-182671400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:182670800-182671400	Enhancers	HUVEC	blood vessel
31	chr2:182670800-182672200	Weak transcription	Esophagus	oesophagus
32	chr2:182670800-182673400	Weak transcription	Stomach Mucosa	stomach
33	chr2:182670800-182675200	Weak transcription	Dnd41	blood
34	chr2:182670800-182675600	Weak transcription	Brain Substantia Nigra	brain
35	chr2:182671000-182671200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr2:182671000-182671600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:182671000-182672000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:182671000-182673800	Weak transcription	Fetal Thymus	thymus
39	chr2:182671000-182673800	Weak transcription	Hela-S3	cervix
40	chr2:182671000-182675400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:182671000-182675400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:182671000-182675400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:182671000-182675400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:182671000-182675400	Weak transcription	HMEC	breast
45	chr2:182671000-182675400	Weak transcription	HSMM	muscle
46	chr2:182671000-182675400	Weak transcription	HSMMtube	muscle
47	chr2:182671000-182675400	Weak transcription	K562	blood
48	chr2:182671000-182675400	Weak transcription	NHDF-Ad	bronchial
49	chr2:182671000-182675600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:182671000-182675600	Weak transcription	Colon Smooth Muscle	Colon

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