Variant report

Variant	rs10428769
Chromosome Location	chr6:37854522-37854523
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	chr6:37848628..37851263-chr6:37853706..37855828,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10485030	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10947702	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10947704	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11751781	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11751927	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11751962	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11752521	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11752809	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11752814	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11753300	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11755095	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11755629	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11756713	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11757161	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11759458	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11759496	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11759826	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11967129	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11969988	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12660919	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12661378	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12661702	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12662426	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12664091	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12664768	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13190751	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13195545	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13205214	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13205311	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13206035	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16890185	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16890267	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16890301	0.80[ASN][1000 genomes]
rs2025431	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2103950	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2273441	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2274091	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2395689	0.88[ASN][1000 genomes]
rs2645111	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2645125	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2645130	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2842510	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2842511	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2842512	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2842521	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34254045	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34450348	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35051126	0.87[ASN][1000 genomes]
rs35122358	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35216205	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35772972	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35849984	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3844314	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55679841	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55996712	0.81[AMR][1000 genomes]
rs56023538	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56129320	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56177150	0.81[AMR][1000 genomes]
rs57402213	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58333612	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58611435	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59859268	0.81[ASN][1000 genomes]
rs61108907	0.81[ASN][1000 genomes]
rs61411293	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6458032	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6903743	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6906289	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6908106	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6910715	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6911716	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6936260	0.83[AMR][1000 genomes]
rs73419440	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7742226	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7745796	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7746266	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7747996	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7748312	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7759145	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7759792	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7761561	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7762052	0.81[AMR][1000 genomes]
rs7764130	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7773419	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7775794	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1016375	chr6:37816863-37865655	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv538204	chr6:37816863-37865655	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37836400-37861800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:37837200-37856000	Weak transcription	NHEK	skin
3	chr6:37840200-37855400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:37840400-37860000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:37840600-37861800	Weak transcription	Primary T cells from cord blood	blood
6	chr6:37841600-37862400	Weak transcription	Fetal Lung	lung
7	chr6:37846000-37857000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:37846000-37865200	Weak transcription	Thymus	Thymus
9	chr6:37846400-37857000	Weak transcription	Right Atrium	heart
10	chr6:37846400-37859600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr6:37846600-37856800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:37846800-37857000	Weak transcription	Right Ventricle	heart
13	chr6:37849200-37856600	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:37849200-37857000	Weak transcription	Brain Anterior Caudate	brain
15	chr6:37849400-37856400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:37850000-37857000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:37850200-37856400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:37850200-37856600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:37850200-37857000	Weak transcription	Brain Angular Gyrus	brain
20	chr6:37850200-37860600	Weak transcription	GM12878-XiMat	blood
21	chr6:37850200-37861600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:37850400-37855200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:37850400-37861600	Weak transcription	Fetal Stomach	stomach
24	chr6:37850400-37861800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr6:37850600-37856800	Weak transcription	Left Ventricle	heart
26	chr6:37850600-37865800	Weak transcription	HSMMtube	muscle
27	chr6:37850600-37869200	Weak transcription	Lung	lung
28	chr6:37850600-37890400	Weak transcription	Primary B cells from cord blood	blood
29	chr6:37850800-37856200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:37850800-37856800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:37850800-37865200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:37851000-37855600	Weak transcription	Liver	Liver
33	chr6:37851000-37856600	Weak transcription	HSMM	muscle
34	chr6:37851000-37856800	Weak transcription	A549	lung
35	chr6:37851000-37861400	Weak transcription	Fetal Intestine Small	intestine
36	chr6:37851000-37861600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:37851000-37861800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:37851000-37861800	Weak transcription	Placenta	Placenta
39	chr6:37851000-37862200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr6:37851000-37866000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:37851000-37868800	Weak transcription	Ovary	ovary
42	chr6:37851000-37869200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:37851000-37884600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:37851200-37855600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:37851200-37856200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr6:37851200-37856400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:37851200-37856400	Weak transcription	HMEC	breast
48	chr6:37851200-37856400	Weak transcription	NHDF-Ad	bronchial
49	chr6:37851200-37856600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:37851200-37856600	Weak transcription	Stomach Mucosa	stomach

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