Variant report

Variant	rs11249937
Chromosome Location	chr8:9534392-9534393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr8:9534234-9535157	SK-N-SH	brain:	n/a	n/a
2	RAD21	chr8:9534347-9534893	HepG2	liver:	n/a	n/a
3	CTCF	chr8:9534320-9534470	HCT-116	colon:	n/a	n/a
4	CTCF	chr8:9534259-9535029	SK-N-SH	brain:	n/a	n/a
5	SMC3	chr8:9534293-9535082	SK-N-SH	brain:	n/a	n/a
6	RAD21	chr8:9534366-9534887	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:9527569..9530106-chr8:9532810..9535408,3	K562	blood:
2	chr8:9226621..9227308-chr8:9534051..9534690,2	MCF-7	breast:
3	chr8:9195700..9196570-chr8:9534210..9534969,2	MCF-7	breast:
4	chr8:9177588..9178247-chr8:9534308..9535009,2	MCF-7	breast:
5	chr8:9195714..9196690-chr8:9534240..9534889,2	MCF-7	breast:

No data

Variant related genes	Relation type
TNKS	TF binding region
ENSG00000173273	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10081478	0.87[ASN][1000 genomes]
rs10081565	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs10104032	0.83[CHB][hapmap]
rs10111376	0.87[CHB][hapmap]
rs11776236	0.96[CHB][hapmap];0.87[ASN][1000 genomes]
rs12114182	0.83[ASN][1000 genomes]
rs12155819	0.91[CHB][hapmap]
rs12541617	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs12542912	0.92[CHB][hapmap]
rs12543959	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs12544371	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12677313	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12679180	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs13250951	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs13260526	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs13263409	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs13270518	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs13270801	0.87[ASN][1000 genomes]
rs13276086	0.91[CHB][hapmap]
rs13282006	0.86[ASN][1000 genomes]
rs4129360	0.92[CHB][hapmap]
rs4313162	0.87[ASN][1000 genomes]
rs4840434	0.83[ASN][1000 genomes]
rs6601344	0.85[ASN][1000 genomes]
rs6982148	0.92[CHB][hapmap]
rs6990300	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs6994574	0.91[CHB][hapmap]
rs7003791	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs73202879	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7461939	0.91[CHB][hapmap]
rs7840706	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs9644708	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs9650639	1.00[CHB][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9501800-9534400	Weak transcription	Fetal Heart	heart
2	chr8:9504800-9549600	Weak transcription	Pancreas	Pancrea
3	chr8:9509400-9545000	Weak transcription	HSMM	muscle
4	chr8:9510400-9563800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:9511000-9564200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:9511400-9537000	Weak transcription	Left Ventricle	heart
7	chr8:9511600-9554600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:9512400-9551400	Weak transcription	Dnd41	blood
9	chr8:9512600-9537200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:9512600-9543800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr8:9513200-9564200	Weak transcription	Ovary	ovary
12	chr8:9513200-9567400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:9513400-9605400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:9513600-9543600	Weak transcription	Fetal Stomach	stomach
15	chr8:9513800-9563600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:9521000-9544800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:9521400-9544200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:9522000-9545000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:9522400-9546000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:9523600-9534400	Weak transcription	Brain Anterior Caudate	brain
21	chr8:9523800-9545000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:9524200-9544600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:9528200-9534400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:9528600-9536800	Weak transcription	Primary B cells from cord blood	blood
25	chr8:9528600-9536800	Weak transcription	Brain Angular Gyrus	brain
26	chr8:9528800-9534400	Weak transcription	Fetal Lung	lung
27	chr8:9529000-9534400	Weak transcription	Brain Substantia Nigra	brain
28	chr8:9529000-9534400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:9529600-9545000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr8:9529600-9545000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:9529600-9549000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:9529600-9606400	Weak transcription	Esophagus	oesophagus
33	chr8:9530000-9538800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr8:9530600-9543800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr8:9530600-9549400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:9530800-9535200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:9530800-9543400	Weak transcription	Primary T cells from cord blood	blood
38	chr8:9530800-9549800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr8:9531200-9564000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:9532000-9534600	Weak transcription	Fetal Kidney	kidney
41	chr8:9532000-9543400	Weak transcription	A549	lung
42	chr8:9532000-9543400	Weak transcription	GM12878-XiMat	blood
43	chr8:9532200-9534400	Weak transcription	Fetal Intestine Small	intestine
44	chr8:9532400-9534400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:9532400-9534800	Weak transcription	Fetal Intestine Large	intestine
46	chr8:9532400-9543400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr8:9532600-9534400	Weak transcription	HepG2	liver
48	chr8:9532600-9536800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:9533200-9536800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr8:9533400-9534400	Weak transcription	Liver	Liver

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