Variant report

Variant	rs17842082
Chromosome Location	chr8:68251322-68251323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr8:68251145-68252300	K562	blood:	n/a	chr8:68251704-68251711
2	POLR2A	chr8:68251240-68252224	K562	blood:	n/a	n/a
3	CTCF	chr8:68251048-68252286	A549	lung:	n/a	chr8:68251954-68251975
4	POLR2A	chr8:68251300-68251890	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:68113288..68115906-chr8:68249996..68251904,2	K562	blood:
2	chr8:68250610..68251504-chr8:68402662..68403659,2	K562	blood:
3	chr8:68251300..68252521-chr8:68402191..68403364,14	MCF-7	breast:
4	chr8:68223577..68225930-chr8:68248709..68251621,2	K562	blood:
5	chr8:68241911..68248311-chr8:68249689..68253329,8	K562	blood:
6	chr8:68251117..68252283-chr8:68369000..68369835,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271966	TF binding region
ENSG00000066777	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10091514	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10100536	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1378999	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933204	1.00[JPT][hapmap]
rs16933259	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933277	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1808140	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290586	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290587	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28502563	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4364616	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58904549	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61403252	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6984597	0.87[EUR][1000 genomes]
rs6986871	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988019	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6988547	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990696	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998170	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7003018	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7004391	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008877	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018327	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7812859	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833956	0.91[AMR][1000 genomes];0.87[EUR][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	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1839724	chr8:68195817-68346693	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68209600-68252400	Weak transcription	Fetal Kidney	kidney
2	chr8:68212800-68252400	Weak transcription	Hela-S3	cervix
3	chr8:68218800-68254200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:68220200-68251600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:68220200-68251800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:68220400-68251400	Weak transcription	NHDF-Ad	bronchial
7	chr8:68220400-68251800	Weak transcription	NHLF	lung
8	chr8:68224600-68251800	Weak transcription	HUVEC	blood vessel
9	chr8:68225600-68251600	Weak transcription	Fetal Brain Female	brain
10	chr8:68226400-68251400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:68226400-68252200	Weak transcription	Placenta	Placenta
12	chr8:68226400-68252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:68226400-68252800	Weak transcription	NHEK	skin
14	chr8:68226400-68254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:68226400-68254600	Weak transcription	Esophagus	oesophagus
16	chr8:68226600-68252400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:68226600-68254200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:68226600-68254400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:68226600-68254600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:68226800-68251600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:68227000-68252400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:68227000-68253600	Weak transcription	Pancreas	Pancrea
23	chr8:68227000-68254600	Weak transcription	Thymus	Thymus
24	chr8:68227200-68251400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:68227200-68251400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:68227400-68254600	Weak transcription	Lung	lung
27	chr8:68229600-68251400	Weak transcription	HSMM	muscle
28	chr8:68229600-68252600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:68229600-68252600	Weak transcription	Small Intestine	intestine
30	chr8:68232200-68254400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:68233200-68251600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:68235000-68254400	Weak transcription	Right Atrium	heart
33	chr8:68236000-68251600	Weak transcription	A549	lung
34	chr8:68236800-68251600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:68236800-68251600	Weak transcription	Brain Substantia Nigra	brain
36	chr8:68237000-68251400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:68237000-68252400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:68237000-68252400	Weak transcription	Brain Anterior Caudate	brain
39	chr8:68237000-68252400	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:68237000-68252400	Weak transcription	NH-A	brain
41	chr8:68237800-68251400	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:68237800-68251400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:68237800-68251600	Weak transcription	Osteobl	bone
44	chr8:68238800-68251400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:68238800-68254000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr8:68239000-68252400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr8:68241600-68253800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:68241800-68251400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr8:68243600-68252400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:68243800-68254400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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