Variant report

Variant	rs6995899
Chromosome Location	chr8:125536198-125536199
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125484651..125486969-chr8:125535041..125537083,3	K562	blood:
2	chr8:125485755..125491202-chr8:125535208..125540184,8	MCF-7	breast:
3	chr8:125484651..125489587-chr8:125535041..125543731,11	K562	blood:
4	chr8:125482386..125490832-chr8:125532319..125553620,55	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245149	Chromatin interaction
ENSG00000170881	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11989882	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996628	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58016931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7820221	0.83[AFR][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	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:125489000-125541200	Weak transcription	Gastric	stomach
3	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
4	chr8:125493200-125539400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:125499000-125537200	Weak transcription	Esophagus	oesophagus
8	chr8:125500000-125538000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:125500000-125538400	Weak transcription	Psoas Muscle	Psoas
10	chr8:125500000-125549600	Weak transcription	Fetal Brain Male	brain
11	chr8:125501600-125550000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:125504000-125550800	Weak transcription	Spleen	Spleen
13	chr8:125505800-125538600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:125506000-125538600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:125510200-125536800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:125510400-125536200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:125511600-125536400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:125512400-125536400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:125516200-125537200	Weak transcription	Lung	lung
20	chr8:125516200-125543600	Weak transcription	Aorta	Aorta
21	chr8:125516200-125549600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr8:125516200-125549600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:125516400-125549600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr8:125519200-125550000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:125520000-125550600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:125523000-125536800	Weak transcription	Stomach Mucosa	stomach
27	chr8:125525200-125549600	Weak transcription	Brain Germinal Matrix	brain
28	chr8:125525400-125536200	Weak transcription	Ovary	ovary
29	chr8:125526600-125536800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:125526600-125541000	Weak transcription	Colonic Mucosa	Colon
31	chr8:125526800-125537200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:125527200-125537000	Weak transcription	Pancreas	Pancrea
33	chr8:125527200-125539600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:125527400-125541000	Weak transcription	Fetal Heart	heart
35	chr8:125527600-125537600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:125527600-125550200	Weak transcription	Fetal Brain Female	brain
37	chr8:125528000-125537000	Weak transcription	A549	lung
38	chr8:125528000-125550400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr8:125528200-125536800	Weak transcription	HepG2	liver
40	chr8:125529200-125537200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:125529200-125537200	Weak transcription	HSMMtube	muscle
42	chr8:125529200-125539600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:125529200-125543600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr8:125529200-125544000	Weak transcription	Fetal Stomach	stomach
45	chr8:125529400-125539600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr8:125529400-125543200	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:125530200-125536400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:125531400-125536400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:125531400-125536800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr8:125531400-125541200	Weak transcription	Hela-S3	cervix

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