Variant report

Variant	rs11781493
Chromosome Location	chr8:8891513-8891514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8890241..8892505-chr8:9006726..9010652,3	MCF-7	breast:
2	chr8:8886740..8888994-chr8:8890137..8892927,2	K562	blood:
3	chr8:8891184..8893104-chr8:9006751..9008501,2	K562	blood:

Variant related genes	Relation type
ENSG00000173281	Chromatin interaction
ENSG00000253426	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17702351	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62495494	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62495541	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
5	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11781493	THEX1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8861200-8892400	Weak transcription	Aorta	Aorta
2	chr8:8861400-8907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:8861800-8891800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:8861800-8892000	Weak transcription	Brain Anterior Caudate	brain
5	chr8:8861800-8892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:8861800-8892200	Weak transcription	Ovary	ovary
7	chr8:8861800-8893800	Weak transcription	Fetal Brain Male	brain
8	chr8:8861800-8897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
10	chr8:8870600-8892200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:8871200-8900000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:8871400-8892800	Weak transcription	HSMMtube	muscle
13	chr8:8871800-8894400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:8875200-8897200	Weak transcription	Gastric	stomach
15	chr8:8875400-8892600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:8875400-8894400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:8875400-8897000	Weak transcription	Lung	lung
18	chr8:8875400-8901200	Weak transcription	Thymus	Thymus
19	chr8:8875800-8892200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr8:8876400-8898000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:8877000-8894600	Weak transcription	HMEC	breast
22	chr8:8877000-8895600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:8877000-8903400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:8877200-8895400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:8879200-8892600	Weak transcription	Osteobl	bone
26	chr8:8879400-8894200	Weak transcription	HepG2	liver
27	chr8:8881000-8900400	Weak transcription	NH-A	brain
28	chr8:8881200-8892000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:8882200-8896400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:8882600-8894600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:8882600-8894600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:8883000-8893200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr8:8883200-8898400	Weak transcription	Fetal Kidney	kidney
34	chr8:8883600-8902400	Weak transcription	Adipose Nuclei	Adipose
35	chr8:8883800-8892200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:8883800-8893800	Weak transcription	NHDF-Ad	bronchial
37	chr8:8883800-8895400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:8883800-8897800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:8883800-8906000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr8:8884000-8892400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:8884000-8894400	Weak transcription	Fetal Heart	heart
42	chr8:8884000-8895000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:8884000-8900200	Weak transcription	Left Ventricle	heart
44	chr8:8884000-8906200	Weak transcription	Psoas Muscle	Psoas
45	chr8:8884200-8892000	Weak transcription	NHLF	lung
46	chr8:8884200-8893600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr8:8884600-8894800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:8884600-8895200	Weak transcription	Liver	Liver
49	chr8:8885800-8895800	Weak transcription	Fetal Lung	lung
50	chr8:8886000-8891600	Weak transcription	Brain Germinal Matrix	brain

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