Variant report

Variant	rs2891717
Chromosome Location	chr8:124339970-124339971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124334857..124337105-chr8:124339120..124341756,3	K562	blood:
2	chr8:124332810..124337062-chr8:124338310..124341756,4	K562	blood:
3	chr10:79631619..79634541-chr8:124338965..124341102,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10105355	1.00[ASN][1000 genomes]
rs10216826	1.00[CHB][hapmap]
rs10956124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774610	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990795	0.81[MKK][hapmap]
rs16898165	0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs16898247	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28693459	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3857956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870849	1.00[GIH][hapmap]
rs4871356	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4871375	1.00[CHB][hapmap]
rs59697406	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62521775	1.00[ASN][1000 genomes]
rs62521778	1.00[ASN][1000 genomes]
rs6470148	1.00[CHB][hapmap]
rs6989437	0.86[ASW][hapmap];0.91[LWK][hapmap];0.98[MKK][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs6996427	0.86[ASW][hapmap];0.91[LWK][hapmap];0.91[MKK][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs6998407	1.00[CHB][hapmap];0.82[LWK][hapmap];1.00[ASN][1000 genomes]
rs7000034	1.00[ASN][1000 genomes]
rs7005105	1.00[CHB][hapmap]
rs73337885	1.00[ASN][1000 genomes]
rs73337894	1.00[ASN][1000 genomes]
rs73341743	1.00[ASN][1000 genomes]
rs73703793	1.00[ASN][1000 genomes]
rs73703796	1.00[ASN][1000 genomes]
rs73703800	1.00[ASN][1000 genomes]
rs7835285	1.00[ASN][1000 genomes]
rs7838103	0.93[ASW][hapmap];1.00[CHB][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7844363	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs900628	1.00[CHB][hapmap];0.82[LWK][hapmap];1.00[ASN][1000 genomes]
rs9297669	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 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	chr8:124323200-124347000	Weak transcription	Fetal Kidney	kidney
2	chr8:124323400-124343000	Weak transcription	Adipose Nuclei	Adipose
3	chr8:124323400-124349800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:124323600-124340400	Weak transcription	NHEK	skin
5	chr8:124323600-124351000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:124325000-124379400	Weak transcription	Right Ventricle	heart
7	chr8:124326400-124372600	Weak transcription	Gastric	stomach
8	chr8:124326600-124349600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr8:124327000-124349400	Weak transcription	Fetal Brain Female	brain
10	chr8:124327600-124342000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:124327600-124369200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:124328400-124386400	Weak transcription	Lung	lung
13	chr8:124328600-124345800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:124328600-124357000	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:124329000-124372600	Weak transcription	Esophagus	oesophagus
16	chr8:124329000-124379600	Weak transcription	Pancreas	Pancrea
17	chr8:124329200-124349000	Weak transcription	Small Intestine	intestine
18	chr8:124329400-124362000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:124329400-124385000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:124329600-124384200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:124329800-124343200	Weak transcription	Aorta	Aorta
22	chr8:124329800-124394200	Strong transcription	Dnd41	blood
23	chr8:124330000-124355000	Weak transcription	NHLF	lung
24	chr8:124330200-124386400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:124330400-124348600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:124330400-124349600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:124330400-124383200	Weak transcription	Colonic Mucosa	Colon
28	chr8:124330400-124393400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:124330400-124394600	Strong transcription	Fetal Thymus	thymus
30	chr8:124330600-124342000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr8:124330600-124342600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:124330600-124365400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:124330600-124393000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:124330800-124342400	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr8:124330800-124366200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:124330800-124366200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr8:124331000-124342600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:124331000-124377600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:124331200-124353200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:124331600-124340400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:124331600-124340800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr8:124331600-124383800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:124331800-124372200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:124332000-124361600	Strong transcription	HepG2	liver
45	chr8:124332200-124348600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:124332600-124348600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr8:124332600-124372200	Weak transcription	Brain Angular Gyrus	brain
48	chr8:124332600-124372600	Weak transcription	Spleen	Spleen
49	chr8:124332800-124345000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:124333000-124387600	Weak transcription	Fetal Brain Male	brain

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