Variant report

Variant	rs11785739
Chromosome Location	chr8:9640400-9640401
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9640376..9642829-chr8:9643116..9645666,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10090277	1.00[CEU][hapmap]
rs10093972	0.87[CEU][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap]
rs10105767	0.87[CEU][hapmap]
rs10105968	0.87[CEU][hapmap]
rs11249944	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs11249947	0.80[ASN][1000 genomes]
rs11787443	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11984920	0.86[CHD][hapmap];0.90[GIH][hapmap]
rs11988208	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs11991831	0.83[EUR][1000 genomes]
rs11995167	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs12056794	0.87[CEU][hapmap];0.85[CHB][hapmap]
rs12234900	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12234999	1.00[CEU][hapmap];0.90[GIH][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs12235001	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs28675389	0.85[EUR][1000 genomes]
rs2898223	0.80[ASN][1000 genomes]
rs3209608	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34614689	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35052906	0.81[EUR][1000 genomes]
rs35420737	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4319098	0.87[CEU][hapmap];0.93[GIH][hapmap];0.82[TSI][hapmap]
rs4380943	0.87[CEU][hapmap]
rs4383973	0.87[CEU][hapmap];0.86[GIH][hapmap];0.90[TSI][hapmap]
rs4386983	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4474027	0.87[CEU][hapmap];0.93[GIH][hapmap];0.90[TSI][hapmap]
rs4612344	0.87[CEU][hapmap]
rs4629869	0.87[CEU][hapmap];0.93[GIH][hapmap];0.90[TSI][hapmap]
rs4840447	0.92[JPT][hapmap]
rs4841215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5002815	0.87[CEU][hapmap];0.83[GIH][hapmap]
rs5018578	0.85[CEU][hapmap]
rs58596872	0.81[EUR][1000 genomes]
rs60222666	0.81[EUR][1000 genomes]
rs60801852	0.83[EUR][1000 genomes]
rs60857446	0.82[EUR][1000 genomes]
rs6422356	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap]
rs6601362	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6984737	0.87[CEU][hapmap]
rs6985140	0.87[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];0.90[TSI][hapmap]
rs6986755	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs6987259	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs6990116	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[GIH][hapmap];0.90[TSI][hapmap]
rs6994452	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs6995292	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs6999382	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7001395	1.00[CEU][hapmap]
rs7002917	0.87[CEU][hapmap]
rs7010154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.90[TSI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7016632	0.87[CEU][hapmap]
rs7018268	0.87[CEU][hapmap]
rs7813518	0.82[EUR][1000 genomes]
rs7827395	0.85[EUR][1000 genomes]
rs7837923	1.00[CEU][hapmap]
rs7846023	1.00[CEU][hapmap];0.90[GIH][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs9644706	0.84[AMR][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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9628600-9640400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr8:9634400-9641600	Weak transcription	Aorta	Aorta
3	chr8:9634800-9641600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:9635400-9640400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:9635400-9641000	Weak transcription	Thymus	Thymus
6	chr8:9635400-9641200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:9635400-9641200	Weak transcription	Left Ventricle	heart
8	chr8:9635400-9641400	Weak transcription	Ovary	ovary
9	chr8:9635400-9641600	Weak transcription	HMEC	breast
10	chr8:9635400-9641800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:9635400-9642000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:9635800-9641400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:9636000-9641600	Weak transcription	Dnd41	blood
14	chr8:9636200-9641200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:9636400-9640800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr8:9636600-9641200	Weak transcription	Right Ventricle	heart
17	chr8:9636800-9641600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:9636800-9641600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:9636800-9641800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:9637000-9641600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:9637200-9641600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:9637400-9640400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:9637400-9640800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:9637400-9641000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:9637400-9641200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:9637400-9641400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:9637400-9641600	Weak transcription	Brain Germinal Matrix	brain
28	chr8:9637400-9642000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:9637600-9641400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:9637800-9640800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:9638000-9642000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:9638200-9641200	Enhancers	Fetal Intestine Small	intestine
33	chr8:9638400-9640400	Enhancers	Liver	Liver
34	chr8:9638600-9640600	Enhancers	Primary B cells from cord blood	blood
35	chr8:9638600-9640600	Enhancers	Stomach Smooth Muscle	stomach
36	chr8:9638600-9640800	Enhancers	Fetal Intestine Large	intestine
37	chr8:9638600-9641000	Enhancers	Primary B cells from peripheral blood	blood
38	chr8:9638600-9642000	Enhancers	Colon Smooth Muscle	Colon
39	chr8:9638600-9644800	Weak transcription	HSMM	muscle
40	chr8:9638600-9645400	Weak transcription	Fetal Brain Male	brain
41	chr8:9638800-9640400	Enhancers	Duodenum Mucosa	Duodenum
42	chr8:9638800-9640400	Enhancers	Rectal Smooth Muscle	rectum
43	chr8:9638800-9640400	Enhancers	Stomach Mucosa	stomach
44	chr8:9638800-9640400	Flanking Active TSS	GM12878-XiMat	blood
45	chr8:9639000-9642000	Weak transcription	Primary T cells from cord blood	blood
46	chr8:9639200-9640400	Flanking Active TSS	HepG2	liver
47	chr8:9639400-9640400	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr8:9639800-9641000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:9639800-9641000	Weak transcription	Fetal Heart	heart
50	chr8:9639800-9641400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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