Variant report

Variant	rs259717
Chromosome Location	chr6:37808389-37808390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37803626..37806524-chr6:37806785..37809778,2	K562	blood:
2	chr6:37785007..37788077-chr6:37806968..37810692,5	K562	blood:
3	chr6:37799938..37802432-chr6:37807821..37809995,2	K562	blood:
4	chr6:37785007..37788077-chr6:37806355..37810692,7	K562	blood:
5	chr6:37806617..37808681-chr6:37810384..37812379,2	K562	blood:

Variant related genes	Relation type
ENSG00000243313	Chromatin interaction
ENSG00000156639	Chromatin interaction
ENSG00000225945	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11756656	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1212636	0.86[CHB][hapmap];0.81[JPT][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12198360	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12211975	0.86[CHB][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12523829	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs174105	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs187741	0.88[ASN][1000 genomes]
rs1979759	0.89[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2055205	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2180514	0.91[CHB][hapmap];0.87[JPT][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2395687	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs259672	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs259674	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs259675	0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs259676	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs259677	0.85[ASN][1000 genomes]
rs259678	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs259682	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs259683	0.91[CHB][hapmap];0.85[JPT][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs259685	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259687	0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs259693	0.91[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs259694	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs259714	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs259721	0.86[CHB][hapmap];0.81[JPT][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs259722	0.86[CHB][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs259723	0.86[CHB][hapmap];0.81[JPT][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3792706	0.81[EUR][1000 genomes]
rs4142102	0.86[CHB][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4711515	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4711522	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs6458030	0.86[CHB][hapmap];0.81[JPT][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67133782	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6912097	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6915506	0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6917668	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6926280	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs6934617	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6937655	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72849334	0.84[ASN][1000 genomes]
rs72849338	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7765798	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs9349051	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9369022	0.81[AMR][1000 genomes]
rs9369029	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs9380703	0.84[ASN][1000 genomes]
rs9380704	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9462374	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs9470714	0.86[CHB][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9470723	0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9470724	0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9470725	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9647620	0.87[JPT][hapmap];0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37791200-37820000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:37791400-37810200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:37791400-37813400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:37791400-37816000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr6:37793800-37813600	Weak transcription	NH-A	brain
6	chr6:37794000-37819800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:37795000-37813800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:37795000-37825600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:37795800-37813400	Weak transcription	HSMMtube	muscle
10	chr6:37796000-37812800	Weak transcription	Colonic Mucosa	Colon
11	chr6:37796000-37813200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:37796000-37813800	Weak transcription	NHDF-Ad	bronchial
13	chr6:37796000-37815600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr6:37796000-37828800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:37796000-37830600	Weak transcription	Hela-S3	cervix
16	chr6:37796200-37811400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:37796200-37813200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:37798400-37812800	Weak transcription	HSMM	muscle
19	chr6:37798400-37815200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:37798400-37815800	Weak transcription	Fetal Heart	heart
21	chr6:37799000-37808400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:37799400-37817400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:37799600-37809400	Weak transcription	Lung	lung
24	chr6:37799600-37811200	Weak transcription	Brain Substantia Nigra	brain
25	chr6:37799600-37811800	Weak transcription	Placenta	Placenta
26	chr6:37799600-37812800	Weak transcription	NHEK	skin
27	chr6:37799600-37813400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:37799600-37825800	Weak transcription	Esophagus	oesophagus
29	chr6:37799800-37825400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:37800200-37812800	Weak transcription	Gastric	stomach
31	chr6:37800200-37813400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr6:37800200-37830200	Weak transcription	Ovary	ovary
33	chr6:37800200-37836200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:37800400-37813200	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:37800600-37809600	Weak transcription	Small Intestine	intestine
36	chr6:37800800-37809600	Weak transcription	Right Ventricle	heart
37	chr6:37801000-37809400	Weak transcription	Left Ventricle	heart
38	chr6:37801000-37811400	Weak transcription	Thymus	Thymus
39	chr6:37801000-37811600	Weak transcription	Fetal Thymus	thymus
40	chr6:37801000-37811800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:37801000-37813600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:37801000-37817600	Weak transcription	Spleen	Spleen
43	chr6:37801000-37818600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:37801200-37833400	Weak transcription	Fetal Muscle Leg	muscle
45	chr6:37802200-37809800	Weak transcription	Dnd41	blood
46	chr6:37802200-37812800	Weak transcription	A549	lung
47	chr6:37802400-37810000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:37802400-37811600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:37802400-37811600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr6:37802400-37812800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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