Variant report

Variant	rs7014715
Chromosome Location	chr8:131198478-131198479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131192568..131195511-chr8:131198204..131200950,2	K562	blood:
2	chr8:131196822..131199241-chr8:131335887..131338128,2	K562	blood:
3	chr8:131192568..131194761-chr8:131198204..131200041,2	K562	blood:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1030386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11993716	0.93[ASN][1000 genomes]
rs12675936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12676014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12676536	0.85[ASN][1000 genomes]
rs12676577	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12676977	0.85[ASN][1000 genomes]
rs12681590	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13253189	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13256967	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13269931	0.85[ASN][1000 genomes]
rs16904201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16904220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16904228	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[ASN][1000 genomes]
rs2114197	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34387098	0.85[ASN][1000 genomes]
rs34857454	0.85[ASN][1000 genomes]
rs36004599	0.85[ASN][1000 genomes]
rs55815182	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56086422	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58012966	0.85[ASN][1000 genomes]
rs61558949	0.93[ASN][1000 genomes]
rs6986746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7006658	0.93[ASN][1000 genomes]
rs7017795	0.85[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7018391	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs73425364	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7822764	1.00[CEU][hapmap];0.88[YRI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7836536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837833	0.82[CHB][hapmap]
rs897050	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9942745	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic 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	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131146600-131206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:131147600-131199800	Weak transcription	Pancreas	Pancrea
3	chr8:131155200-131206800	Weak transcription	Psoas Muscle	Psoas
4	chr8:131171000-131208600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:131172200-131198800	Weak transcription	Small Intestine	intestine
6	chr8:131172200-131211600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:131172600-131199800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:131172600-131206800	Weak transcription	Esophagus	oesophagus
9	chr8:131172800-131210800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:131173000-131198600	Weak transcription	Brain Angular Gyrus	brain
11	chr8:131173600-131206600	Weak transcription	Dnd41	blood
12	chr8:131174600-131198800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:131175400-131206000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:131179000-131198800	Weak transcription	Fetal Lung	lung
15	chr8:131179000-131208600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:131179200-131208600	Weak transcription	Fetal Brain Female	brain
17	chr8:131179400-131199800	Weak transcription	Lung	lung
18	chr8:131179600-131198800	Weak transcription	Fetal Intestine Small	intestine
19	chr8:131179600-131199800	Weak transcription	Spleen	Spleen
20	chr8:131179600-131218400	Weak transcription	Thymus	Thymus
21	chr8:131179800-131198600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:131179800-131198800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:131179800-131199200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:131179800-131205000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:131179800-131206800	Weak transcription	Fetal Thymus	thymus
26	chr8:131179800-131207800	Weak transcription	Brain Germinal Matrix	brain
27	chr8:131180000-131206000	Weak transcription	K562	blood
28	chr8:131180200-131207000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:131181000-131198800	Weak transcription	Fetal Intestine Large	intestine
30	chr8:131181000-131208600	Weak transcription	Right Ventricle	heart
31	chr8:131181000-131224600	Weak transcription	Hela-S3	cervix
32	chr8:131181200-131206000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr8:131181200-131229000	Weak transcription	Aorta	Aorta
34	chr8:131182000-131199400	Weak transcription	Liver	Liver
35	chr8:131184400-131206800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:131185800-131198600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:131186000-131199200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:131186000-131206800	Weak transcription	Gastric	stomach
39	chr8:131187800-131209000	Weak transcription	Fetal Stomach	stomach
40	chr8:131188400-131206000	Weak transcription	HSMMtube	muscle
41	chr8:131188600-131198800	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:131189400-131198800	Weak transcription	Left Ventricle	heart
43	chr8:131189400-131203800	Weak transcription	HMEC	breast
44	chr8:131191400-131205800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr8:131191600-131206000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:131191800-131199000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:131191800-131206400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:131192600-131199600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr8:131193000-131198800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:131193200-131198600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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