Variant report

Variant	rs6988082
Chromosome Location	chr8:54628383-54628384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54627356..54630312-chr8:54633637..54635175,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1031979	1.00[CEU][hapmap];0.86[CHB][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap];0.85[EUR][1000 genomes]
rs1031980	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10435587	1.00[CEU][hapmap];0.80[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12056486	0.95[EUR][1000 genomes]
rs12056719	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.85[EUR][1000 genomes]
rs12234972	0.85[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap]
rs1552148	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.82[MEX][hapmap]
rs16919507	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16919508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919522	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16919534	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16919537	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919541	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[EUR][1000 genomes]
rs16919563	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[AMR][1000 genomes]
rs16919571	1.00[CEU][hapmap];0.86[CHB][hapmap];0.80[GIH][hapmap];0.91[MEX][hapmap];0.81[EUR][1000 genomes]
rs16919573	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap];0.81[EUR][1000 genomes]
rs1872063	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs1905061	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2128150	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.80[GIH][hapmap];0.81[MEX][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2170444	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap];0.81[EUR][1000 genomes]
rs2376011	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3735831	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];0.82[MEX][hapmap]
rs3757954	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs41321146	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.90[EUR][1000 genomes]
rs4236945	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4737192	1.00[CEU][hapmap];0.86[CHB][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap];0.85[EUR][1000 genomes]
rs4737518	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737554	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4737558	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4737753	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.86[ASN][1000 genomes]
rs4737761	0.85[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs4737764	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4737765	1.00[CEU][hapmap];0.86[CHB][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap];0.85[EUR][1000 genomes]
rs4737821	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[MEX][hapmap]
rs4737974	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4738025	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs4738027	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs4738470	0.82[AMR][1000 genomes]
rs4738646	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4738701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738884	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4738916	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55682919	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56818292	0.88[EUR][1000 genomes]
rs56956173	0.81[ASN][1000 genomes]
rs56973376	0.93[EUR][1000 genomes]
rs57071607	0.82[EUR][1000 genomes]
rs57550901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58473841	0.87[AMR][1000 genomes]
rs58558817	0.90[EUR][1000 genomes]
rs58970885	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6473893	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6984257	1.00[CEU][hapmap]
rs6986372	0.85[CEU][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6987427	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6988009	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6988808	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes]
rs6994851	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6997003	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs6997127	1.00[CEU][hapmap];0.86[CHB][hapmap];0.80[GIH][hapmap];0.91[MEX][hapmap];0.85[EUR][1000 genomes]
rs6999454	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7005696	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7006934	0.85[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7009705	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7018162	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs73587624	0.84[AMR][1000 genomes]
rs73587627	0.87[AMR][1000 genomes]
rs73682549	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73682551	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73682552	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73682555	0.93[EUR][1000 genomes]
rs73682568	0.88[EUR][1000 genomes]
rs7387704	0.82[AMR][1000 genomes]
rs7843701	1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs900163	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs958268	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9643480	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9643819	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9643820	1.00[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6988082	TCEA1	cis	lymphoblastoid	seeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54613600-54629800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:54613600-54634800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:54620800-54636200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:54620800-54636200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:54621000-54629000	Weak transcription	Gastric	stomach
6	chr8:54621400-54643600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:54622200-54632800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:54624200-54635800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:54624200-54640600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr8:54624200-54643600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:54624600-54639200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:54625000-54628800	Weak transcription	Stomach Mucosa	stomach
13	chr8:54625000-54640000	Weak transcription	Fetal Thymus	thymus
14	chr8:54625000-54642000	Weak transcription	Brain Substantia Nigra	brain
15	chr8:54625200-54634600	Weak transcription	Pancreas	Pancrea
16	chr8:54625200-54635800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:54625200-54639800	Weak transcription	Thymus	Thymus
18	chr8:54625200-54641200	Weak transcription	Brain Angular Gyrus	brain
19	chr8:54625200-54649000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr8:54625200-54649600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr8:54625400-54628400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:54625400-54628400	Weak transcription	HUVEC	blood vessel
23	chr8:54625400-54628800	Weak transcription	GM12878-XiMat	blood
24	chr8:54625400-54629000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:54625400-54629200	Weak transcription	Fetal Stomach	stomach
26	chr8:54625400-54630600	Weak transcription	Fetal Intestine Small	intestine
27	chr8:54625400-54631800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:54625400-54634000	Weak transcription	NHDF-Ad	bronchial
29	chr8:54625400-54634200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr8:54625400-54634600	Weak transcription	Esophagus	oesophagus
31	chr8:54625400-54634800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:54625400-54634800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr8:54625400-54634800	Weak transcription	Left Ventricle	heart
34	chr8:54625400-54636200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:54625400-54636200	Weak transcription	Aorta	Aorta
36	chr8:54625400-54639200	Weak transcription	Brain Anterior Caudate	brain
37	chr8:54625400-54639400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr8:54625400-54639600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:54625400-54639600	Weak transcription	Fetal Lung	lung
40	chr8:54625400-54639800	Weak transcription	Fetal Intestine Large	intestine
41	chr8:54625400-54639800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:54625400-54639800	Weak transcription	HMEC	breast
43	chr8:54625400-54639800	Weak transcription	NH-A	brain
44	chr8:54625400-54640000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:54625400-54640600	Weak transcription	Fetal Brain Female	brain
46	chr8:54625400-54640600	Weak transcription	Psoas Muscle	Psoas
47	chr8:54625400-54640600	Weak transcription	Right Ventricle	heart
48	chr8:54625400-54640600	Weak transcription	NHLF	lung
49	chr8:54625400-54641800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:54625400-54641800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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