Variant report

Variant	rs3799658
Chromosome Location	chr6:166936266-166936267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166935159..166937591-chr6:166943431..166946372,2	K562	blood:
2	chr6:166932943..166934797-chr6:166936117..166937896,2	K562	blood:

Variant related genes	Relation type
ENSG00000269048	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10214537	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12528147	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12528167	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35302651	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3757193	1.00[ASW][hapmap];0.90[CEU][hapmap];0.93[GIH][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3778409	1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs3778412	0.86[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.85[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs3778418	1.00[CEU][hapmap];0.93[GIH][hapmap];0.90[LWK][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3778422	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3799632	0.81[CEU][hapmap];1.00[GIH][hapmap]
rs3799647	0.86[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.85[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs3799654	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3799667	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3799670	1.00[YRI][hapmap]
rs55665778	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6939941	0.87[CHD][hapmap]
rs7765185	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs9364856	1.00[YRI][hapmap]
rs9457174	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv886941	chr6:166907173-166996991	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
4	esv1806956	chr6:166928580-166938431	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv605259	chr6:166936021-166952981	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166901000-166954800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr6:166902200-166954400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:166902600-166952800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr6:166909600-166943800	Weak transcription	Colonic Mucosa	Colon
5	chr6:166913000-166952000	Weak transcription	Primary T cells from cord blood	blood
6	chr6:166916200-166954200	Weak transcription	Right Atrium	heart
7	chr6:166916400-166940400	Weak transcription	Fetal Heart	heart
8	chr6:166921400-166943600	Weak transcription	Fetal Lung	lung
9	chr6:166921600-166937400	Weak transcription	Fetal Brain Male	brain
10	chr6:166923000-166937200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:166923000-166940400	Weak transcription	Aorta	Aorta
12	chr6:166923000-166943800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:166923200-166940200	Weak transcription	Ovary	ovary
14	chr6:166923200-166943200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:166923200-166943800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr6:166923600-166936800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr6:166923800-166944400	Weak transcription	Psoas Muscle	Psoas
18	chr6:166923800-166953000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:166925000-166940400	Weak transcription	Adipose Nuclei	Adipose
20	chr6:166927200-166938000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:166928400-166938400	Weak transcription	Right Ventricle	heart
22	chr6:166928800-166936800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:166928800-166943400	Weak transcription	Fetal Brain Female	brain
24	chr6:166929000-166938000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr6:166929000-166943400	Weak transcription	Liver	Liver
26	chr6:166929400-166943000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:166929600-166937400	Weak transcription	HUVEC	blood vessel
28	chr6:166929600-166938200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:166929600-166942800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:166929600-166954000	Weak transcription	HSMM	muscle
31	chr6:166929600-166955600	Weak transcription	HMEC	breast
32	chr6:166930200-166944000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:166930400-166937400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:166930400-166937400	Weak transcription	Brain Hippocampus Middle	brain
35	chr6:166930400-166937400	Weak transcription	Spleen	Spleen
36	chr6:166930400-166938600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr6:166930400-166940200	Weak transcription	Brain Angular Gyrus	brain
38	chr6:166930400-166940400	Weak transcription	NHDF-Ad	bronchial
39	chr6:166930400-166943000	Weak transcription	Brain Anterior Caudate	brain
40	chr6:166930400-166943800	Weak transcription	Esophagus	oesophagus
41	chr6:166930400-166954200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:166930400-166957800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:166930600-166937800	Weak transcription	NHLF	lung
44	chr6:166930600-166942800	Weak transcription	Brain Substantia Nigra	brain
45	chr6:166931600-166941600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:166931600-166943200	Weak transcription	Brain Germinal Matrix	brain
47	chr6:166932000-166941400	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr6:166932200-166941800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:166932400-166940400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:166932400-166948600	Weak transcription	Primary B cells from cord blood	blood

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