Variant report

Variant	rs2273441
Chromosome Location	chr6:37897839-37897840
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10428769	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10485030	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10498739	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs10498740	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs10947702	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10947704	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10947710	0.90[CHB][hapmap]
rs11750950	0.90[CHB][hapmap]
rs11751781	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11751927	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751962	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11752521	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11752809	0.81[EUR][1000 genomes]
rs11752814	0.83[EUR][1000 genomes]
rs11752863	0.83[ASN][1000 genomes]
rs11753054	0.90[CHB][hapmap]
rs11753300	0.83[EUR][1000 genomes]
rs11755095	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11755629	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11756713	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11757072	0.90[CHB][hapmap]
rs11757161	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11758095	0.90[CHB][hapmap]
rs11759458	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs11759483	0.90[CHB][hapmap]
rs11759496	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11759826	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11967129	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11969988	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12660221	0.85[CHB][hapmap]
rs12660498	0.83[CHB][hapmap]
rs12660732	0.85[CHB][hapmap]
rs12660773	0.82[CHB][hapmap]
rs12660919	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12660922	0.82[ASN][1000 genomes]
rs12661073	0.85[CHB][hapmap]
rs12661378	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12661480	0.89[CHB][hapmap]
rs12661702	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12662305	0.84[CHB][hapmap];0.82[ASN][1000 genomes]
rs12662426	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12663427	0.85[CHB][hapmap]
rs12664091	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12664768	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12664900	0.90[CHB][hapmap]
rs13190751	0.83[EUR][1000 genomes]
rs13195545	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13205214	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs13205311	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13206035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16890177	0.85[CHB][hapmap]
rs16890181	0.85[CHB][hapmap]
rs16890185	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs16890215	0.85[CHB][hapmap]
rs16890247	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs16890267	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890298	0.85[CHB][hapmap]
rs16890299	0.85[CHB][hapmap]
rs16890301	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16890305	0.85[CHB][hapmap]
rs16890307	0.81[CHB][hapmap]
rs16890309	0.84[CHB][hapmap]
rs16890362	0.85[CHB][hapmap]
rs16890370	0.85[CHB][hapmap]
rs1885324	0.84[CHB][hapmap]
rs2025431	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2055207	0.85[CHB][hapmap]
rs2064795	0.85[CHB][hapmap]
rs2103950	0.84[EUR][1000 genomes]
rs2145887	0.90[CHB][hapmap]
rs2274090	0.85[CHB][hapmap]
rs2274091	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2395689	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2645111	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2645125	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2645130	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2842510	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2842511	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2842512	0.97[ASN][1000 genomes]
rs2842521	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34254045	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34450348	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35051126	0.97[ASN][1000 genomes]
rs35122358	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35216205	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35772972	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35849984	0.93[EUR][1000 genomes]
rs3844314	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3852216	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs4524602	0.85[CHB][hapmap]
rs55679841	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56023538	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56129320	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57276677	0.83[ASN][1000 genomes]
rs57402213	0.83[ASN][1000 genomes]
rs57911756	0.83[ASN][1000 genomes]
rs58333612	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58611435	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59036086	0.84[ASN][1000 genomes]
rs59103990	0.82[ASN][1000 genomes]
rs61411293	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6458032	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6903743	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6906289	0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6908106	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs6910715	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs6911716	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6936260	0.89[CEU][hapmap]
rs71569402	0.86[ASN][1000 genomes]
rs73419440	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73421436	0.83[ASN][1000 genomes]
rs73421439	0.83[ASN][1000 genomes]
rs752110	0.90[CHB][hapmap]
rs7742226	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7745796	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7746266	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7747996	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7748312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7759145	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7759792	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7761561	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7762052	0.89[CEU][hapmap]
rs7764130	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7773419	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7775794	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9470772	0.90[CHB][hapmap]
rs9470777	0.90[CHB][hapmap]
rs9470784	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37873400-37929200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:37874600-37903800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:37876600-37903200	Weak transcription	Dnd41	blood
4	chr6:37878800-37900400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:37880000-37898000	Weak transcription	Fetal Thymus	thymus
6	chr6:37880200-37930000	Weak transcription	Thymus	Thymus
7	chr6:37884600-37904800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:37884800-37898200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr6:37884800-37917000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr6:37885200-37906200	Weak transcription	HSMM	muscle
11	chr6:37887600-37933200	Weak transcription	NHDF-Ad	bronchial
12	chr6:37887800-37906200	Weak transcription	HSMMtube	muscle
13	chr6:37887800-37906600	Weak transcription	NH-A	brain
14	chr6:37888600-37903600	Weak transcription	Osteobl	bone
15	chr6:37888800-37898000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:37888800-37898600	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:37888800-37903800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:37889000-37898000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr6:37889000-37898200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:37889000-37906400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:37889200-37898000	Weak transcription	Brain Hippocampus Middle	brain
22	chr6:37889200-37898200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:37889200-37898600	Weak transcription	Brain Substantia Nigra	brain
24	chr6:37889200-37903600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:37889800-37903800	Weak transcription	Aorta	Aorta
26	chr6:37890800-37910400	Weak transcription	NHEK	skin
27	chr6:37891000-37900800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:37892400-37902800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr6:37892400-37903400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:37892400-37904000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:37892400-37904400	Weak transcription	GM12878-XiMat	blood
32	chr6:37892400-37907200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:37892600-37903800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr6:37892600-37905000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:37892600-37910800	Weak transcription	Primary B cells from cord blood	blood
36	chr6:37892600-37928800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr6:37892800-37898000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr6:37892800-37903400	Weak transcription	Primary T cells from cord blood	blood
39	chr6:37892800-37904000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:37892800-37904000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr6:37892800-37904600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr6:37893200-37910400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:37893800-37898200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:37894200-37899000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr6:37894600-37903200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr6:37895200-37906600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr6:37895400-37898800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:37895400-37898800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr6:37895800-37903200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:37895800-37908400	Weak transcription	Adipose Nuclei	Adipose

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