Variant report

Variant	rs6988747
Chromosome Location	chr8:126172678-126172679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126168096..126171201-chr8:126171348..126174534,3	K562	blood:
2	chr12:122240264..122242429-chr8:126171268..126172917,2	MCF-7	breast:
3	chr8:126167671..126170997-chr8:126171128..126173953,3	MCF-7	breast:
4	chr8:126159964..126163627-chr8:126168529..126173031,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139718	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000212694	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11987707	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs12056336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12679295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16900457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16900461	1.00[CEU][hapmap]
rs4481615	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55839055	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56326134	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57252921	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57905807	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58179901	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58383711	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58805022	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59056247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60494467	0.83[EUR][1000 genomes]
rs6984988	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6988871	1.00[CEU][hapmap]
rs6992545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997418	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6997658	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997862	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7002224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010813	0.88[CHB][hapmap]
rs7010992	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs7014707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015295	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7017497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348122	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73348148	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73348187	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73349893	1.00[ASN][1000 genomes]
rs73351205	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73351208	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73704543	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73704549	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73704556	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822618	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825799	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs7827336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833107	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7833463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7839274	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844453	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.83[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv1022954	chr8:126117811-126180331	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
2	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
3	chr8:126138000-126191000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:126138000-126197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr8:126138200-126200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:126138400-126200200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:126143000-126193200	Weak transcription	Left Ventricle	heart
9	chr8:126143200-126180600	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:126143200-126186800	Weak transcription	Adipose Nuclei	Adipose
11	chr8:126154000-126175600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:126155800-126175800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:126156600-126180600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:126156600-126185400	Weak transcription	Lung	lung
15	chr8:126156600-126199800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:126157400-126186400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:126158200-126186600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:126158600-126173200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:126158600-126180600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:126158600-126185400	Weak transcription	Placenta	Placenta
21	chr8:126160600-126179000	Weak transcription	Spleen	Spleen
22	chr8:126160600-126180400	Weak transcription	HUVEC	blood vessel
23	chr8:126160600-126181800	Weak transcription	Right Atrium	heart
24	chr8:126160600-126185400	Weak transcription	Aorta	Aorta
25	chr8:126160600-126187400	Weak transcription	Gastric	stomach
26	chr8:126161400-126175800	Weak transcription	HepG2	liver
27	chr8:126162200-126186600	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:126162600-126183000	Weak transcription	Psoas Muscle	Psoas
29	chr8:126163200-126174800	Weak transcription	Hela-S3	cervix
30	chr8:126163200-126180600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:126163200-126193200	Weak transcription	Ovary	ovary
32	chr8:126163600-126180600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:126164000-126181800	Weak transcription	Fetal Lung	lung
34	chr8:126164200-126174800	Weak transcription	NHDF-Ad	bronchial
35	chr8:126164200-126185200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:126164200-126185400	Weak transcription	HSMMtube	muscle
37	chr8:126164400-126174800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr8:126164400-126174800	Weak transcription	NHLF	lung
39	chr8:126164400-126174800	Weak transcription	Osteobl	bone
40	chr8:126164400-126179400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:126164400-126180400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:126164400-126181400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:126164400-126186000	Weak transcription	NH-A	brain
44	chr8:126164600-126174800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:126164600-126180800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:126164600-126186000	Weak transcription	HSMM	muscle
47	chr8:126164800-126175000	Weak transcription	A549	lung
48	chr8:126164800-126186800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:126165000-126174000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr8:126165000-126180400	Weak transcription	NHEK	skin

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