Variant report

Variant	rs17162130
Chromosome Location	chr11:72074367-72074368
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:72074280-72074430	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72066867..72068378-chr11:72072272..72074567,2	K562	blood:

Variant related genes	Relation type
CLPB	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1160142	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11821309	1.00[EUR][1000 genomes]
rs17160018	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17162135	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17162141	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17847215	1.00[EUR][1000 genomes]
rs2508200	0.82[ASN][1000 genomes]
rs2886351	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35340702	1.00[EUR][1000 genomes]
rs4268536	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4475949	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4488227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57431438	1.00[EUR][1000 genomes]
rs57824428	1.00[EUR][1000 genomes]
rs58058345	0.89[ASN][1000 genomes]
rs58515298	0.92[ASN][1000 genomes]
rs58571741	0.92[ASN][1000 genomes]
rs7109307	0.89[ASN][1000 genomes]
rs730042	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73528804	1.00[EUR][1000 genomes]
rs73528860	0.80[ASN][1000 genomes]
rs73545636	1.00[EUR][1000 genomes]
rs7927430	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[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	nsv832206	chr11:72006573-72176017	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72033000-72075600	Weak transcription	A549	lung
2	chr11:72038400-72076600	Weak transcription	Liver	Liver
3	chr11:72039800-72077400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:72041800-72076000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:72043200-72076600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:72045800-72094600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:72050000-72092200	Weak transcription	Pancreas	Pancrea
8	chr11:72059800-72086800	Weak transcription	Fetal Brain Male	brain
9	chr11:72061000-72075600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:72061200-72074600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:72061200-72077800	Weak transcription	Brain Angular Gyrus	brain
12	chr11:72061400-72088600	Weak transcription	Ovary	ovary
13	chr11:72061400-72089800	Weak transcription	Brain Anterior Caudate	brain
14	chr11:72061400-72090000	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:72061400-72092200	Weak transcription	Gastric	stomach
16	chr11:72062400-72076200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:72062600-72089600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:72064000-72090000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:72064400-72080000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:72064400-72090000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:72064800-72074600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:72064800-72088800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:72064800-72089800	Weak transcription	HSMMtube	muscle
24	chr11:72065000-72110800	Weak transcription	Hela-S3	cervix
25	chr11:72065800-72076000	Weak transcription	GM12878-XiMat	blood
26	chr11:72066200-72091200	Weak transcription	Aorta	Aorta
27	chr11:72066600-72095000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:72067000-72092000	Weak transcription	HepG2	liver
29	chr11:72067400-72090800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:72067800-72089600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:72067800-72090000	Weak transcription	Right Ventricle	heart
32	chr11:72068200-72075400	Weak transcription	Fetal Intestine Large	intestine
33	chr11:72068200-72084000	Weak transcription	Lung	lung
34	chr11:72068400-72074400	Weak transcription	Thymus	Thymus
35	chr11:72069000-72090000	Weak transcription	NHEK	skin
36	chr11:72069400-72077000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:72069400-72089600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr11:72069400-72111400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:72069600-72074600	Weak transcription	Adipose Nuclei	Adipose
40	chr11:72069600-72076400	Weak transcription	Fetal Muscle Leg	muscle
41	chr11:72069600-72090000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr11:72069600-72090200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:72069600-72090200	Weak transcription	Placenta	Placenta
44	chr11:72069600-72094600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr11:72069800-72077200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:72069800-72078400	Weak transcription	Dnd41	blood
47	chr11:72069800-72084000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:72069800-72089200	Weak transcription	Spleen	Spleen
49	chr11:72069800-72089400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr11:72069800-72098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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