Variant report

Variant	rs41285881
Chromosome Location	chr6:147695051-147695052
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:147223830..147226657-chr6:147694168..147696836,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1034245	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499247	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17076671	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17076689	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58371914	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58638359	0.85[EUR][1000 genomes]
rs61120449	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6921496	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73787171	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73788817	0.85[EUR][1000 genomes]
rs73788833	0.85[EUR][1000 genomes]
rs73788845	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73788902	0.87[AFR][1000 genomes]
rs7743335	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9485155	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9485159	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9497729	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9497738	0.86[AFR][1000 genomes]
rs9497740	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9497747	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9497762	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv470864	chr6:147539165-147709179	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv886754	chr6:147539165-147729477	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv604840	chr6:147539165-147730324	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1832155	chr6:147554900-147715464	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv886755	chr6:147577646-147729477	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv886756	chr6:147580697-147729477	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv830839	chr6:147584914-147757264	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv886757	chr6:147591022-147729477	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv1016430	chr6:147662541-147711882	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv1022283	chr6:147663541-147700720	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv886759	chr6:147686274-147764267	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147607400-147707400	Weak transcription	Colon Smooth Muscle	Colon
2	chr6:147610200-147700200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:147622600-147708200	Weak transcription	Psoas Muscle	Psoas
4	chr6:147626000-147700200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:147626200-147707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:147626400-147700000	Weak transcription	Brain Germinal Matrix	brain
7	chr6:147631400-147707200	Weak transcription	Hela-S3	cervix
8	chr6:147642800-147705000	Weak transcription	HepG2	liver
9	chr6:147644200-147704000	Weak transcription	GM12878-XiMat	blood
10	chr6:147645200-147715000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:147649000-147705000	Weak transcription	Fetal Brain Male	brain
12	chr6:147649600-147703800	Weak transcription	Fetal Stomach	stomach
13	chr6:147649600-147706000	Weak transcription	Fetal Kidney	kidney
14	chr6:147649600-147711800	Weak transcription	Colonic Mucosa	Colon
15	chr6:147649800-147708000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:147650200-147706400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:147655000-147707800	Weak transcription	Esophagus	oesophagus
18	chr6:147668200-147698600	Weak transcription	Aorta	Aorta
19	chr6:147668200-147708000	Weak transcription	NHEK	skin
20	chr6:147669400-147699600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:147678600-147705200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:147679000-147702000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:147679000-147707400	Weak transcription	Brain Substantia Nigra	brain
24	chr6:147680400-147707600	Weak transcription	Gastric	stomach
25	chr6:147680400-147707600	Weak transcription	Small Intestine	intestine
26	chr6:147680400-147710600	Weak transcription	Pancreas	Pancrea
27	chr6:147680400-147721800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:147680600-147698600	Weak transcription	Fetal Intestine Small	intestine
29	chr6:147680600-147707600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr6:147680600-147707800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr6:147684800-147707400	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:147685000-147700000	Weak transcription	Brain Angular Gyrus	brain
33	chr6:147685000-147700200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr6:147685400-147695800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:147685600-147697600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:147685600-147700000	Weak transcription	Liver	Liver
37	chr6:147685600-147707600	Weak transcription	HUVEC	blood vessel
38	chr6:147685600-147714200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:147687200-147704600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:147687400-147706200	Weak transcription	Right Ventricle	heart
41	chr6:147687600-147695600	Weak transcription	Placenta	Placenta
42	chr6:147687600-147698800	Weak transcription	Fetal Lung	lung
43	chr6:147687600-147705000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr6:147687600-147705000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr6:147687600-147706200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:147687600-147707600	Weak transcription	Lung	lung
47	chr6:147687600-147707600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr6:147687800-147695800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr6:147687800-147697600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:147687800-147698400	Weak transcription	Rectal Mucosa Donor 29	rectum

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