Variant report

Variant	rs11997750
Chromosome Location	chr8:11028917-11028918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11986564	0.93[YRI][hapmap]
rs11991749	0.92[YRI][hapmap]
rs11995739	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11997297	0.93[YRI][hapmap]
rs11997794	1.00[AMR][1000 genomes]
rs12545002	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs34246803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55884158	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56801900	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57452073	1.00[AMR][1000 genomes]
rs57750289	1.00[AFR][1000 genomes]
rs58099531	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662701	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662702	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73665003	1.00[AMR][1000 genomes]
rs73665005	1.00[AMR][1000 genomes]
rs73665006	1.00[AMR][1000 genomes]
rs73665007	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73665009	1.00[AMR][1000 genomes]
rs73665010	1.00[AMR][1000 genomes]
rs73665011	1.00[AMR][1000 genomes]
rs73665012	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73665015	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025426	chr8:10942929-11037903	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1026331	chr8:10955941-11046394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv519941	chr8:11016889-11039816	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11016600-11032200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:11022600-11035000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:11024400-11029200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:11026000-11029000	ZNF genes & repeats	GM12878-XiMat	blood
5	chr8:11026600-11034200	Weak transcription	Esophagus	oesophagus
6	chr8:11026800-11031200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:11026800-11034600	Weak transcription	HSMM	muscle
8	chr8:11026800-11035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:11026800-11035200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:11026800-11035200	Weak transcription	HMEC	breast
11	chr8:11026800-11037200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:11026800-11043600	Weak transcription	Pancreas	Pancrea
13	chr8:11026800-11043800	Weak transcription	Spleen	Spleen
14	chr8:11027000-11031000	Weak transcription	HSMMtube	muscle
15	chr8:11027000-11031200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:11027000-11034800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:11027000-11035000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:11027200-11029800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:11027200-11035000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:11028000-11029000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr8:11028000-11030400	Enhancers	NH-A	brain
22	chr8:11028000-11035200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:11028000-11048200	Weak transcription	Primary B cells from cord blood	blood
24	chr8:11028200-11029600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr8:11028200-11029800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:11028200-11050200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:11028200-11052400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr8:11028200-11056600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:11028400-11029000	Weak transcription	Fetal Intestine Small	intestine
30	chr8:11028400-11035000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr8:11028400-11035200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:11028600-11029200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:11028600-11030200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:11028800-11029200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:11028800-11035000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:11028800-11054400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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