Variant report

Variant	rs2281054
Chromosome Location	chr6:166860792-166860793
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17514303	1.00[CEU][hapmap]
rs2281053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2281055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281057	1.00[CEU][hapmap]
rs2281059	1.00[CEU][hapmap]
rs2281061	1.00[CEU][hapmap]
rs2294328	1.00[CEU][hapmap]
rs6456083	1.00[CEU][hapmap]
rs742113	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886937	chr6:166830696-166922813	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv886938	chr6:166859725-166904398	Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv886939	chr6:166859725-166922813	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166808200-166911800	Weak transcription	Psoas Muscle	Psoas
2	chr6:166824000-166901400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:166825200-166875800	Weak transcription	Colonic Mucosa	Colon
4	chr6:166827000-166873400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:166827600-166867200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:166830000-166866600	Weak transcription	Fetal Intestine Large	intestine
7	chr6:166833200-166864400	Weak transcription	Fetal Kidney	kidney
8	chr6:166833200-166879000	Weak transcription	NH-A	brain
9	chr6:166833400-166879000	Weak transcription	HSMM	muscle
10	chr6:166834000-166866400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:166834200-166863800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:166834200-166879400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:166834600-166862000	Weak transcription	NHDF-Ad	bronchial
14	chr6:166843000-166865200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:166844200-166865200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:166845800-166862000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:166845800-166863400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr6:166846000-166861000	Weak transcription	HSMMtube	muscle
19	chr6:166846000-166861800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:166846000-166862200	Weak transcription	Fetal Intestine Small	intestine
21	chr6:166846000-166863200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr6:166846000-166881000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:166848800-166865200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:166849400-166861000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:166850200-166862000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:166850200-166863400	Weak transcription	Stomach Mucosa	stomach
27	chr6:166850200-166865200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:166850200-166870000	Weak transcription	Right Atrium	heart
29	chr6:166850400-166862000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:166853600-166861000	Weak transcription	Fetal Lung	lung
31	chr6:166853600-166862000	Weak transcription	Primary T cells from cord blood	blood
32	chr6:166854000-166864200	Weak transcription	HUVEC	blood vessel
33	chr6:166854400-166862000	Strong transcription	Lung	lung
34	chr6:166854800-166862800	Strong transcription	Left Ventricle	heart
35	chr6:166855200-166864800	Strong transcription	Pancreas	Pancrea
36	chr6:166855400-166863200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:166855400-166864600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:166855600-166864600	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr6:166855800-166862800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:166855800-166864800	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:166856200-166864800	Strong transcription	Brain Anterior Caudate	brain
42	chr6:166856400-166862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:166856400-166862800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:166856800-166862600	Strong transcription	Adipose Nuclei	Adipose
45	chr6:166857400-166863200	Strong transcription	Brain Hippocampus Middle	brain
46	chr6:166857800-166863000	Strong transcription	Fetal Stomach	stomach
47	chr6:166857800-166863200	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr6:166857800-166865200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr6:166858000-166862600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr6:166858000-166862800	Strong transcription	Fetal Brain Female	brain

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