Variant report

Variant	rs6987295
Chromosome Location	chr8:42591974-42591975
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42590898..42593022-chr8:42638954..42640483,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6991791	1.00[AMR][1000 genomes]
rs6992929	1.00[AMR][1000 genomes]
rs6997640	1.00[AMR][1000 genomes]
rs7824088	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1030451	chr8:42543326-42618390	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1034121	chr8:42549810-42618713	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42588400-42592000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:42588600-42594800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:42588600-42595400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr8:42589200-42592000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr8:42590800-42593000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:42590800-42593200	Enhancers	Pancreas	Pancrea
7	chr8:42591200-42592000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr8:42591400-42592600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:42591400-42592800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:42591400-42592800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr8:42591400-42592800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:42591400-42593200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:42591400-42595600	Enhancers	Primary T cells from cord blood	blood
14	chr8:42591400-42596600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:42591400-42596800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:42591600-42593000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:42591600-42593000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr8:42591600-42593000	Enhancers	HSMMtube	muscle
19	chr8:42591800-42592000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:42591800-42592200	Enhancers	Right Ventricle	heart
21	chr8:42591800-42592200	Bivalent Enhancer	HepG2	liver
22	chr8:42591800-42592400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:42591800-42592600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:42591800-42592600	Enhancers	HSMM	muscle
25	chr8:42591800-42592600	Enhancers	K562	blood
26	chr8:42591800-42592800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr8:42591800-42592800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:42591800-42592800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:42591800-42592800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr8:42591800-42592800	Enhancers	Primary hematopoietic stem cells	blood
31	chr8:42591800-42592800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr8:42591800-42592800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr8:42591800-42592800	Enhancers	Fetal Heart	heart
34	chr8:42591800-42592800	Enhancers	Psoas Muscle	Psoas
35	chr8:42591800-42592800	Enhancers	Thymus	Thymus
36	chr8:42591800-42592800	Enhancers	HUVEC	blood vessel
37	chr8:42591800-42593000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:42591800-42593000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr8:42591800-42593000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr8:42591800-42593000	Enhancers	Fetal Muscle Leg	muscle
41	chr8:42591800-42593000	Enhancers	Fetal Thymus	thymus
42	chr8:42591800-42593000	Enhancers	GM12878-XiMat	blood

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