Variant report

Variant	rs1699020
Chromosome Location	chr6:38570713-38570714
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38568689..38571683-chr6:38658193..38660563,2	K562	blood:
2	chr6:38567307..38570367-chr6:38570470..38574374,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12525759	0.84[JPT][hapmap]
rs16890826	0.94[JPT][hapmap]
rs1699006	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1699013	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1699015	0.85[CEU][hapmap]
rs1699018	0.85[CEU][hapmap]
rs1739622	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1739625	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1781739	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1781740	0.85[CEU][hapmap]
rs1781741	1.00[CEU][hapmap];0.84[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1781742	0.88[CEU][hapmap]
rs2748166	1.00[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2748168	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2748169	0.94[JPT][hapmap]
rs2814891	0.94[JPT][hapmap]
rs2814893	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6458060	0.82[CEU][hapmap]
rs7769186	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38523000-38571600	Weak transcription	HSMMtube	muscle
2	chr6:38535800-38578200	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:38548200-38570800	Weak transcription	Fetal Kidney	kidney
4	chr6:38549000-38570800	Weak transcription	Fetal Intestine Small	intestine
5	chr6:38556000-38580400	Weak transcription	Ovary	ovary
6	chr6:38557400-38571800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:38557400-38571800	Weak transcription	NHDF-Ad	bronchial
8	chr6:38557400-38578000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:38557800-38571600	Weak transcription	HMEC	breast
10	chr6:38557800-38572000	Weak transcription	NHLF	lung
11	chr6:38560600-38570800	Weak transcription	Fetal Intestine Large	intestine
12	chr6:38560600-38570800	Weak transcription	Left Ventricle	heart
13	chr6:38560600-38570800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr6:38560600-38571000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:38560600-38571800	Weak transcription	HSMM	muscle
16	chr6:38560600-38574400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:38560800-38570800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:38560800-38571400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:38560800-38580000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:38560800-38580200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:38561400-38577600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:38561400-38578000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr6:38561600-38571400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:38561800-38571600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:38561800-38571600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:38562000-38570800	Weak transcription	Brain Hippocampus Middle	brain
27	chr6:38562000-38571800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:38562000-38574600	Weak transcription	Fetal Muscle Leg	muscle
29	chr6:38562000-38578000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:38562200-38571200	Weak transcription	Liver	Liver
31	chr6:38562200-38571600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:38562200-38575000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:38562200-38580000	Weak transcription	Aorta	Aorta
34	chr6:38562800-38579800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:38564000-38580400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr6:38565000-38574800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr6:38565400-38589200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr6:38565800-38583200	Weak transcription	Primary T cells from cord blood	blood
39	chr6:38565800-38583600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr6:38567800-38580400	Weak transcription	Right Ventricle	heart
41	chr6:38568000-38570800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:38568200-38580000	Weak transcription	Psoas Muscle	Psoas
43	chr6:38568200-38584200	Weak transcription	Primary B cells from cord blood	blood
44	chr6:38570600-38570800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr6:38570600-38571000	Enhancers	Fetal Lung	lung
46	chr6:38570600-38571000	Enhancers	Small Intestine	intestine
47	chr6:38570600-38572200	Enhancers	Duodenum Mucosa	Duodenum

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