Variant report

Variant	rs34132973
Chromosome Location	chr8:68227607-68227608
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	chr8:68226101..68228304-chr8:68255635..68257151,2	K562	blood:
2	chr1:149223437..149224016-chr8:68227173..68227988,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000271966	Chromatin interaction
ENSG00000066777	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10105795	0.91[ASN][1000 genomes]
rs10957384	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11774715	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11779287	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11986169	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11995348	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12674570	0.95[ASN][1000 genomes]
rs12674848	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12675528	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12678025	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12678865	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12679614	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12681292	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12682412	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13253205	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13255070	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13264289	0.88[ASN][1000 genomes]
rs13267015	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13270606	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13275593	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13275826	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13280556	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1544986	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17425781	0.92[ASN][1000 genomes]
rs1821026	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28640047	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34345865	0.95[ASN][1000 genomes]
rs34711984	0.95[ASN][1000 genomes]
rs35017613	0.81[EUR][1000 genomes]
rs35480743	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35754047	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35904049	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56186469	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57179217	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60196076	0.92[ASN][1000 genomes]
rs6472297	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68086555	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6987724	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6992604	0.84[EUR][1000 genomes]
rs6993324	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7002191	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013561	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs718348	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72654960	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7464980	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7812777	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7812887	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813810	0.87[ASN][1000 genomes]
rs7817641	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7818520	0.91[ASN][1000 genomes]
rs7822637	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7823436	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7830183	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7841468	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7841756	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7844125	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][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	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1839724	chr8:68195817-68346693	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68162400-68231000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:68173600-68236400	Weak transcription	Stomach Mucosa	stomach
3	chr8:68197800-68234200	Weak transcription	Aorta	Aorta
4	chr8:68209600-68252400	Weak transcription	Fetal Kidney	kidney
5	chr8:68211600-68240800	Weak transcription	Fetal Brain Male	brain
6	chr8:68212200-68229000	Weak transcription	HepG2	liver
7	chr8:68212400-68228200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:68212800-68252400	Weak transcription	Hela-S3	cervix
9	chr8:68213200-68229000	Weak transcription	Small Intestine	intestine
10	chr8:68214000-68228200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:68214000-68234600	Weak transcription	HMEC	breast
12	chr8:68214400-68228600	Weak transcription	Ovary	ovary
13	chr8:68218800-68254200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:68220200-68229000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:68220200-68251600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:68220200-68251800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:68220400-68228800	Weak transcription	NH-A	brain
18	chr8:68220400-68251400	Weak transcription	NHDF-Ad	bronchial
19	chr8:68220400-68251800	Weak transcription	NHLF	lung
20	chr8:68220600-68227800	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:68220600-68236400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:68220800-68228400	Weak transcription	Brain Anterior Caudate	brain
23	chr8:68220800-68228800	Weak transcription	Osteobl	bone
24	chr8:68221800-68229000	Weak transcription	HSMMtube	muscle
25	chr8:68224600-68251800	Weak transcription	HUVEC	blood vessel
26	chr8:68225600-68227800	Strong transcription	Primary B cells from cord blood	blood
27	chr8:68225600-68230000	Enhancers	Colon Smooth Muscle	Colon
28	chr8:68225600-68250200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:68225600-68251600	Weak transcription	Fetal Brain Female	brain
30	chr8:68225800-68228800	Weak transcription	HSMM	muscle
31	chr8:68226000-68229200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:68226000-68236400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:68226200-68229000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:68226200-68229200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr8:68226200-68236200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:68226200-68236600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:68226400-68228800	Weak transcription	Left Ventricle	heart
38	chr8:68226400-68228800	Weak transcription	Right Atrium	heart
39	chr8:68226400-68228800	Weak transcription	Right Ventricle	heart
40	chr8:68226400-68229000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:68226400-68229200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:68226400-68229400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr8:68226400-68231600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr8:68226400-68236400	Weak transcription	Adipose Nuclei	Adipose
45	chr8:68226400-68236400	Weak transcription	Brain Substantia Nigra	brain
46	chr8:68226400-68236400	Weak transcription	Gastric	stomach
47	chr8:68226400-68236600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:68226400-68236600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:68226400-68238000	Weak transcription	GM12878-XiMat	blood
50	chr8:68226400-68238600	Weak transcription	H1 Cell Line	embryonic stem cell

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