Variant report

Variant	rs6988841
Chromosome Location	chr8:117730893-117730894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117730565..117733333-chr8:117735015..117736708,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10085939	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10086419	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10088177	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10093551	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10096134	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10105610	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10112279	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10112604	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10505282	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10505286	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10505287	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10808484	0.85[ASN][1000 genomes]
rs11781970	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12547058	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1317271	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13258529	0.89[EUR][1000 genomes]
rs13262725	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13277714	0.88[EUR][1000 genomes]
rs13277958	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1347626	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1436765	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1436766	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1529945	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2118108	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3088140	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34519652	0.88[EUR][1000 genomes]
rs35338453	0.88[EUR][1000 genomes]
rs35905748	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4256624	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4278180	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4289846	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4289847	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4335152	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4335153	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4422805	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4472547	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4601347	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4623456	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4629900	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4645587	0.88[ASN][1000 genomes]
rs55951040	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6469656	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6469657	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6980504	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6983032	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7007250	0.88[EUR][1000 genomes]
rs7013617	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7464414	0.88[EUR][1000 genomes]
rs7820778	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7830860	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7833054	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7836549	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7843852	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7846316	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117707800-117732600	Weak transcription	Fetal Thymus	thymus
2	chr8:117708000-117733200	Weak transcription	Hela-S3	cervix
3	chr8:117708600-117732800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr8:117708600-117733200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:117708600-117733200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr8:117716000-117733400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:117717800-117732600	Weak transcription	Primary B cells from cord blood	blood
8	chr8:117718000-117733400	Weak transcription	Right Ventricle	heart
9	chr8:117718800-117732600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:117719200-117731400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:117719200-117732600	Weak transcription	Gastric	stomach
12	chr8:117719200-117732600	Weak transcription	Left Ventricle	heart
13	chr8:117719200-117733200	Weak transcription	Pancreas	Pancrea
14	chr8:117719400-117733200	Weak transcription	Ovary	ovary
15	chr8:117721600-117732600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:117722000-117735600	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:117722000-117740800	Weak transcription	NHLF	lung
18	chr8:117722400-117731200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:117722400-117732600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:117722400-117732600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:117722400-117732600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:117722400-117732800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:117722400-117732800	Weak transcription	HMEC	breast
24	chr8:117722400-117733200	Weak transcription	Aorta	Aorta
25	chr8:117722400-117733200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:117722400-117738800	Weak transcription	Small Intestine	intestine
27	chr8:117722600-117731400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:117722600-117732600	Weak transcription	K562	blood
29	chr8:117722600-117740800	Weak transcription	HSMMtube	muscle
30	chr8:117722800-117731400	Weak transcription	Fetal Brain Female	brain
31	chr8:117723000-117732600	Weak transcription	Dnd41	blood
32	chr8:117723200-117732200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:117724600-117732600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr8:117724600-117733200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:117724600-117738800	Weak transcription	Psoas Muscle	Psoas
36	chr8:117724800-117732600	Weak transcription	Fetal Heart	heart
37	chr8:117726000-117731400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:117726800-117732600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:117726800-117735800	Weak transcription	HSMM	muscle
40	chr8:117727000-117732600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr8:117727000-117732600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:117727200-117732600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:117727400-117732000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:117727400-117732600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr8:117727400-117732600	Weak transcription	NHDF-Ad	bronchial
46	chr8:117727400-117733200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:117727400-117733200	Weak transcription	NH-A	brain
48	chr8:117727600-117732600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr8:117727800-117731400	Weak transcription	Adipose Nuclei	Adipose
50	chr8:117727800-117733000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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