Variant report

Variant	rs6997418
Chromosome Location	chr8:126205246-126205247
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126202633..126205386-chr8:126440752..126443830,3	MCF-7	breast:
2	chr8:126198688..126200568-chr8:126203635..126206517,2	K562	blood:
3	chr8:126202921..126205556-chr8:126450247..126452721,2	K562	blood:
4	chr8:126198558..126200941-chr8:126203635..126206340,3	K562	blood:
5	chr8:126204575..126206211-chr8:126217254..126218910,2	K562	blood:
6	chr8:126184359..126187803-chr8:126204598..126207522,3	K562	blood:

Variant related genes	Relation type
ENSG00000173334	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];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12679295	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12681565	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12682185	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16900457	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4481615	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55839055	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56326134	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57252921	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57905807	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58179901	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58383711	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58805022	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59056247	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60494467	0.81[EUR][1000 genomes]
rs6984988	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6988747	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6992545	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6997136	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6997658	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6997862	0.81[EUR][1000 genomes]
rs7002224	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7014707	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7015295	0.82[EUR][1000 genomes]
rs7017497	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73348122	0.81[EUR][1000 genomes]
rs73348148	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73348187	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73349893	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs73351205	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73351208	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73704543	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73704549	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73704556	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7822618	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7823372	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7827336	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7833107	0.81[EUR][1000 genomes]
rs7833463	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7837996	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7839274	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7844453	0.81[EUR][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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
2	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:126179400-126208800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:126182000-126217600	Weak transcription	Fetal Kidney	kidney
5	chr8:126194200-126226000	Weak transcription	Ovary	ovary
6	chr8:126198800-126214000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:126200800-126216200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:126201000-126217000	Weak transcription	Hela-S3	cervix
9	chr8:126201200-126213800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:126201200-126228200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:126201400-126219800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:126201600-126213200	Weak transcription	Fetal Lung	lung
13	chr8:126201600-126216400	Weak transcription	Aorta	Aorta
14	chr8:126201600-126217000	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:126201600-126218000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:126201600-126218600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:126201600-126224000	Weak transcription	Liver	Liver
18	chr8:126201600-126231200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:126201600-126231600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:126201600-126236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr8:126201800-126207000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:126201800-126213800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:126201800-126226000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:126201800-126230200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:126202000-126205600	Enhancers	NHDF-Ad	bronchial
26	chr8:126202000-126213800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:126202200-126232200	Weak transcription	Primary B cells from cord blood	blood
28	chr8:126202400-126216400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:126202600-126205400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr8:126202600-126213800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:126202600-126237400	Weak transcription	Fetal Thymus	thymus
32	chr8:126202800-126219800	Weak transcription	Left Ventricle	heart
33	chr8:126202800-126231600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr8:126203000-126207400	Weak transcription	Dnd41	blood
35	chr8:126203000-126219000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr8:126203200-126231400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:126203400-126205600	Enhancers	Stomach Mucosa	stomach
38	chr8:126203800-126206800	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr8:126203800-126214600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:126203800-126231000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:126204200-126205600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:126204200-126213800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:126204200-126218800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:126204200-126219000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:126204200-126226400	Weak transcription	Pancreas	Pancrea
46	chr8:126204200-126231000	Weak transcription	Brain Angular Gyrus	brain
47	chr8:126204200-126231200	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:126204400-126206400	Enhancers	K562	blood
49	chr8:126204400-126206800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr8:126204400-126216800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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