Variant report

Variant	rs6981647
Chromosome Location	chr8:126248730-126248731
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	chr8:126246905..126249499-chr8:126264857..126266632,2	K562	blood:
2	chr8:126235461..126238167-chr8:126248077..126250279,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10089963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10093813	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10093819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10095101	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10096522	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10097568	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10098862	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10102769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10106909	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10109490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10109574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10110958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10112171	0.88[ASN][1000 genomes]
rs10112583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10216523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10283187	1.00[JPT][hapmap]
rs2303523	1.00[JPT][hapmap]
rs28469260	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28597078	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28700192	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28867439	0.91[ASN][1000 genomes]
rs3763593	0.91[ASN][1000 genomes]
rs7010385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7016677	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73348181	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7357374	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs954889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9987342	1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126226800-126260200	Weak transcription	Right Ventricle	heart
2	chr8:126233800-126249600	Weak transcription	Gastric	stomach
3	chr8:126233800-126264800	Weak transcription	Left Ventricle	heart
4	chr8:126238800-126253600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:126239600-126274000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:126240400-126267000	Weak transcription	Primary T cells from cord blood	blood
7	chr8:126241000-126250200	Weak transcription	Psoas Muscle	Psoas
8	chr8:126241200-126251200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:126241400-126258000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:126243000-126260000	Weak transcription	GM12878-XiMat	blood
11	chr8:126243200-126267000	Weak transcription	Brain Angular Gyrus	brain
12	chr8:126243600-126253400	Weak transcription	Primary B cells from cord blood	blood
13	chr8:126245400-126256200	Weak transcription	HSMM	muscle
14	chr8:126245600-126249400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:126245600-126249400	Weak transcription	Fetal Intestine Small	intestine
16	chr8:126245600-126249600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:126245600-126251800	Weak transcription	HepG2	liver
18	chr8:126245600-126269600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:126246200-126249000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:126247200-126249000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:126247200-126249000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:126247200-126249200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:126247200-126249200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:126247200-126265200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:126247400-126249200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:126247400-126249200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:126247400-126249800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:126247400-126251200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:126248600-126250800	Weak transcription	Primary monocytes fromperipheralblood	blood

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