Variant report

Variant	rs6751685
Chromosome Location	chr2:182769666-182769667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182677255..182678837-chr2:182768538..182770841,2	K562	blood:
2	chr2:182767335..182770167-chr2:182885743..182887524,2	MCF-7	breast:
3	chr2:182767750..182771715-chr2:182883912..182886743,3	MCF-7	breast:
4	chr2:182601328..182613741-chr2:182753153..182773539,79	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221023	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];0.85[TSI][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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[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];0.87[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[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];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[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[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4597477	0.80[EUR][1000 genomes]
rs55732891	1.00[AFR][1000 genomes];0.93[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[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][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]
rs6754192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754819	0.80[EUR][1000 genomes]
rs6755017	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][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]
rs7603721	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]
rs7606321	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7608942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9807949	1.00[CEU][hapmap];0.85[TSI][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	chr2:182761200-182772200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:182761400-182779400	Weak transcription	Fetal Stomach	stomach
17	chr2:182761400-182795800	Strong transcription	Placenta	Placenta
18	chr2:182761600-182771600	Strong transcription	NHDF-Ad	bronchial
19	chr2:182762000-182779400	Weak transcription	Aorta	Aorta
20	chr2:182762000-182780000	Weak transcription	Fetal Heart	heart
21	chr2:182762200-182775000	Weak transcription	Colonic Mucosa	Colon
22	chr2:182762600-182769800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:182763200-182769800	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr2:182763600-182771400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:182764000-182769800	Genic enhancers	Liver	Liver
26	chr2:182764600-182771000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:182764600-182776600	Weak transcription	Spleen	Spleen
28	chr2:182764600-182786600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:182765000-182769800	Strong transcription	K562	blood
30	chr2:182765000-182775200	Weak transcription	Small Intestine	intestine
31	chr2:182765000-182779000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:182765200-182769800	Strong transcription	Primary hematopoietic stem cells	blood
33	chr2:182765200-182773400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:182765200-182776000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:182765200-182779200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:182765200-182779400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:182765200-182779400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr2:182765200-182780400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:182765400-182775600	Strong transcription	A549	lung
40	chr2:182765400-182779200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:182766000-182778400	Weak transcription	Fetal Brain Male	brain
42	chr2:182767000-182779800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:182767200-182779000	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:182767200-182783200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:182767400-182771000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:182767600-182769800	Enhancers	Brain Substantia Nigra	brain
47	chr2:182767600-182779000	Weak transcription	Fetal Brain Female	brain
48	chr2:182767600-182780000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:182767800-182771400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:182767800-182775200	Weak transcription	Fetal Lung	lung

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