Variant report

Variant	rs2055207
Chromosome Location	chr6:38019748-38019749
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	chr6:38018120..38021042-chr6:38024484..38026207,2	K562	blood:
2	chr6:38005433..38007087-chr6:38019483..38021384,2	MCF-7	breast:

Extended variants
information (count: 163 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs10498739	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10498740	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10947710	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11750950	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs11751781	0.85[CHB][hapmap]
rs11752521	0.85[CHB][hapmap]
rs11752799	0.86[ASN][1000 genomes]
rs11753054	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11753067	0.86[ASN][1000 genomes]
rs11753160	0.86[ASN][1000 genomes]
rs11755190	0.86[ASN][1000 genomes]
rs11755192	0.86[ASN][1000 genomes]
rs11755629	0.85[CHB][hapmap]
rs11756713	0.85[CHB][hapmap]
rs11756902	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11757072	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11757143	0.89[ASN][1000 genomes]
rs11757323	0.83[ASN][1000 genomes]
rs11758095	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11758747	0.89[ASN][1000 genomes]
rs11759483	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11759725	0.82[ASN][1000 genomes]
rs11759826	0.85[CHB][hapmap]
rs11759859	0.81[ASN][1000 genomes]
rs12660221	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12660498	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12660732	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12660773	1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs12661073	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12661109	0.84[ASN][1000 genomes]
rs12661129	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12661480	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12662072	0.84[ASN][1000 genomes]
rs12662305	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12662543	0.86[ASN][1000 genomes]
rs12662823	0.84[ASN][1000 genomes]
rs12662940	0.86[ASN][1000 genomes]
rs12663086	0.83[ASN][1000 genomes]
rs12663207	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12663406	0.85[ASN][1000 genomes]
rs12663427	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12663450	0.85[ASN][1000 genomes]
rs12663957	0.84[ASN][1000 genomes]
rs12664091	0.85[CHB][hapmap]
rs12664768	0.85[CHB][hapmap]
rs12664900	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12665229	0.87[ASN][1000 genomes]
rs13206035	0.85[CHB][hapmap]
rs16890215	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16890247	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16890298	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16890299	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16890301	0.90[CHB][hapmap]
rs16890305	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs16890307	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16890309	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16890341	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16890362	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16890370	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1885324	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs1885326	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2055208	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2073021	0.86[ASN][1000 genomes]
rs2145886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2145887	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2145888	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2273441	0.85[CHB][hapmap]
rs2274090	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2281264	0.87[ASN][1000 genomes]
rs2281265	0.86[ASN][1000 genomes]
rs2395689	0.90[CHB][hapmap]
rs2395692	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2395693	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2842510	0.85[CHB][hapmap]
rs2842511	0.90[CHB][hapmap]
rs2842521	0.85[CHB][hapmap]
rs28740822	0.83[ASN][1000 genomes]
rs34370874	0.83[ASN][1000 genomes]
rs3800364	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3844314	0.85[CHB][hapmap]
rs3852216	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4524602	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55786703	0.80[ASN][1000 genomes]
rs56247028	0.86[ASN][1000 genomes]
rs56348433	0.83[ASN][1000 genomes]
rs56390138	0.83[ASN][1000 genomes]
rs56688119	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56739079	0.87[ASN][1000 genomes]
rs56914148	0.89[ASN][1000 genomes]
rs56957219	0.87[ASN][1000 genomes]
rs57142729	0.99[ASN][1000 genomes]
rs57160603	0.83[ASN][1000 genomes]
rs57208246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57236731	0.87[ASN][1000 genomes]
rs57405566	0.86[ASN][1000 genomes]
rs57409051	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57525562	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57537146	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57630694	0.87[ASN][1000 genomes]
rs57812773	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57995712	0.83[ASN][1000 genomes]
rs58084785	0.81[ASN][1000 genomes]
rs58204078	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58332635	0.99[ASN][1000 genomes]
rs58397443	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58473303	0.84[ASN][1000 genomes]
rs59074919	0.87[ASN][1000 genomes]
rs59170481	0.87[ASN][1000 genomes]
rs59219746	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59350040	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59430914	0.82[ASN][1000 genomes]
rs59578279	0.89[ASN][1000 genomes]
rs59684841	0.86[ASN][1000 genomes]
rs59769374	0.83[ASN][1000 genomes]
rs60075988	0.87[ASN][1000 genomes]
rs60404082	0.84[ASN][1000 genomes]
rs60425175	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60508820	0.84[ASN][1000 genomes]
rs60883115	0.82[ASN][1000 genomes]
rs60986358	0.86[ASN][1000 genomes]
rs61146875	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61172238	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6458032	0.85[CHB][hapmap]
rs6911716	0.85[CHB][hapmap]
rs73419927	0.97[ASN][1000 genomes]
rs73419930	0.98[ASN][1000 genomes]
rs73419955	0.89[ASN][1000 genomes]
rs73419996	0.89[ASN][1000 genomes]
rs73734319	0.87[ASN][1000 genomes]
rs73734323	0.87[ASN][1000 genomes]
rs752110	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7739801	0.94[CHB][hapmap];1.00[YRI][hapmap]
rs7745340	0.85[ASN][1000 genomes]
rs7746266	0.84[CHB][hapmap]
rs7748312	0.85[CHB][hapmap]
rs7748392	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7748913	0.82[ASN][1000 genomes]
rs7759792	0.85[CHB][hapmap]
rs7760452	0.86[ASN][1000 genomes]
rs7773419	0.85[CHB][hapmap]
rs7775794	0.85[CHB][hapmap]
rs874095	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs876818	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9462389	0.86[ASN][1000 genomes]
rs9462393	0.86[ASN][1000 genomes]
rs9462394	0.86[ASN][1000 genomes]
rs9462395	0.86[ASN][1000 genomes]
rs9462396	0.85[ASN][1000 genomes]
rs9462397	0.87[ASN][1000 genomes]
rs9462398	0.86[ASN][1000 genomes]
rs9470772	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9470777	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9470784	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9470794	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9470796	0.86[ASN][1000 genomes]
rs9470798	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9470802	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2754649	chr6:37985025-38147910	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37985000-38030200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:37995800-38020600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:37998600-38029200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:38001000-38028600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:38002400-38029400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr6:38002800-38024400	Weak transcription	Fetal Stomach	stomach
7	chr6:38003000-38024800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr6:38003000-38025000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr6:38003200-38024400	Weak transcription	Primary T cells from cord blood	blood
10	chr6:38003600-38025400	Weak transcription	NHDF-Ad	bronchial
11	chr6:38004200-38024600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:38004200-38029200	Weak transcription	Primary B cells from cord blood	blood
13	chr6:38006800-38024200	Weak transcription	Thymus	Thymus
14	chr6:38007400-38025400	Weak transcription	NH-A	brain
15	chr6:38008400-38028400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr6:38010600-38029000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr6:38011600-38024200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:38011800-38024200	Weak transcription	Psoas Muscle	Psoas
19	chr6:38011800-38029400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:38012000-38022400	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:38012400-38029400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:38015400-38029600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:38015600-38021000	Weak transcription	HepG2	liver
24	chr6:38015600-38029400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:38016200-38029400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr6:38016800-38020400	Weak transcription	Spleen	Spleen
27	chr6:38017200-38021000	Enhancers	HMEC	breast
28	chr6:38017200-38055000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:38017400-38031000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:38017800-38021400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:38018200-38020400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:38018200-38025800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:38018400-38025600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr6:38018400-38030000	Weak transcription	Fetal Intestine Small	intestine
35	chr6:38018600-38021000	Enhancers	NHEK	skin
36	chr6:38018600-38025600	Weak transcription	Osteobl	bone
37	chr6:38018800-38019800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr6:38018800-38021000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:38018800-38023000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr6:38018800-38024400	Weak transcription	Aorta	Aorta
41	chr6:38019000-38020400	Weak transcription	Esophagus	oesophagus
42	chr6:38019000-38022400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:38019000-38031800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr6:38019200-38020000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr6:38019200-38020400	Weak transcription	Small Intestine	intestine
46	chr6:38019400-38019800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr6:38019400-38020200	Enhancers	A549	lung
48	chr6:38019400-38020600	Weak transcription	Left Ventricle	heart
49	chr6:38019400-38022400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:38019400-38029400	Weak transcription	Right Ventricle	heart

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