Variant report

Variant	rs1699021
Chromosome Location	chr6:38571268-38571269
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	chr6:38568689..38571683-chr6:38658193..38660563,2	K562	blood:
2	chr6:38567307..38570367-chr6:38570470..38574374,4	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1612697	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1699018	0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs1739624	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1781710	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2748167	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2748170	0.81[EUR][1000 genomes]
rs6458060	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs71571329	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:48 , 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	chr6:38556000-38580400	Weak transcription	Ovary	ovary
4	chr6:38557400-38571800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:38557400-38571800	Weak transcription	NHDF-Ad	bronchial
6	chr6:38557400-38578000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:38557800-38571600	Weak transcription	HMEC	breast
8	chr6:38557800-38572000	Weak transcription	NHLF	lung
9	chr6:38560600-38571800	Weak transcription	HSMM	muscle
10	chr6:38560600-38574400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:38560800-38571400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:38560800-38580000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:38560800-38580200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:38561400-38577600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:38561400-38578000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:38561600-38571400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:38561800-38571600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:38561800-38571600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:38562000-38571800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:38562000-38574600	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:38562000-38578000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:38562200-38571600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:38562200-38575000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:38562200-38580000	Weak transcription	Aorta	Aorta
25	chr6:38562800-38579800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:38564000-38580400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr6:38565000-38574800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr6:38565400-38589200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr6:38565800-38583200	Weak transcription	Primary T cells from cord blood	blood
30	chr6:38565800-38583600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr6:38567800-38580400	Weak transcription	Right Ventricle	heart
32	chr6:38568200-38580000	Weak transcription	Psoas Muscle	Psoas
33	chr6:38568200-38584200	Weak transcription	Primary B cells from cord blood	blood
34	chr6:38570600-38572200	Enhancers	Duodenum Mucosa	Duodenum
35	chr6:38570800-38571400	Enhancers	Brain Hippocampus Middle	brain
36	chr6:38570800-38571600	Enhancers	Fetal Intestine Large	intestine
37	chr6:38570800-38572000	Enhancers	Fetal Intestine Small	intestine
38	chr6:38570800-38572000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr6:38570800-38572000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr6:38570800-38572200	Enhancers	HepG2	liver
41	chr6:38570800-38572400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:38570800-38572400	Enhancers	Fetal Heart	heart
43	chr6:38571000-38571400	Weak transcription	Left Ventricle	heart
44	chr6:38571000-38571600	Weak transcription	Fetal Kidney	kidney
45	chr6:38571000-38571800	Weak transcription	Fetal Lung	lung
46	chr6:38571000-38572000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr6:38571000-38580000	Weak transcription	Small Intestine	intestine
48	chr6:38571200-38572000	Enhancers	Liver	Liver

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