Variant report

Variant	rs73704549
Chromosome Location	chr8:126186068-126186069
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126184359..126187803-chr8:126204598..126207522,3	K562	blood:
2	chr8:126183828..126186606-chr8:126190098..126191640,2	MCF-7	breast:
3	chr8:126184530..126188708-chr8:126189850..126192758,4	MCF-7	breast:
4	chr8:126184387..126187013-chr8:126442001..126443979,2	MCF-7	breast:
5	chr1:875400..877590-chr8:126185955..126188744,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction
ENSG00000187634	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12056336	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12679295	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681565	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682185	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16900457	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4481615	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55839055	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56326134	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57252921	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57905807	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58179901	0.85[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	0.88[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	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6988747	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992545	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997136	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997418	0.89[AFR][1000 genomes];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	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7002224	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014707	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	0.95[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	0.86[AFR][1000 genomes];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	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73351205	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73351208	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73704543	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73704556	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822618	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823372	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827336	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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837996	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7839274	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844453	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	nsv1034798	chr8:126179383-126241525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

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	chr8:126143200-126186800	Weak transcription	Adipose Nuclei	Adipose
10	chr8:126156600-126199800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:126157400-126186400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:126158200-126186600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:126160600-126187400	Weak transcription	Gastric	stomach
14	chr8:126162200-126186600	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:126163200-126193200	Weak transcription	Ovary	ovary
16	chr8:126164800-126186800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:126166000-126200200	Weak transcription	Dnd41	blood
18	chr8:126167000-126187000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:126167000-126200400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:126169800-126187200	Weak transcription	Colonic Mucosa	Colon
21	chr8:126170600-126200600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:126171000-126199200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:126172000-126187000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:126172000-126201000	Weak transcription	Fetal Thymus	thymus
25	chr8:126172800-126186200	Weak transcription	Brain Anterior Caudate	brain
26	chr8:126172800-126186600	Weak transcription	Brain Angular Gyrus	brain
27	chr8:126173000-126186800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:126173400-126187000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:126175800-126186600	Weak transcription	Hela-S3	cervix
30	chr8:126176200-126200400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr8:126176600-126186600	Weak transcription	K562	blood
32	chr8:126179200-126194400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr8:126179200-126195800	Weak transcription	Esophagus	oesophagus
34	chr8:126179400-126187200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr8:126179400-126208800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:126179800-126193800	Weak transcription	Pancreas	Pancrea
37	chr8:126180000-126186600	Weak transcription	GM12878-XiMat	blood
38	chr8:126181200-126187400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:126181200-126188200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:126181600-126186200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:126181800-126186800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:126181800-126200600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr8:126182000-126217600	Weak transcription	Fetal Kidney	kidney
44	chr8:126182200-126186400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:126182200-126186800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:126182400-126186200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr8:126182400-126186600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr8:126182400-126186800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:126182400-126187000	Weak transcription	Right Atrium	heart
50	chr8:126182400-126201000	Weak transcription	HepG2	liver

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