Variant report

Variant	rs11118505
Chromosome Location	chr1:220391681-220391682
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	chr1:220391560-220391810	HCPEpiC	choroid plexus:	n/a	n/a
2	CTCF	chr1:220391680-220391830	NHLF	lung:	n/a	n/a
3	CTCF	chr1:220391620-220391770	HPAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220385337..220388816-chr1:220389719..220393116,3	K562	blood:
2	chr1:220390706..220392701-chr1:220399648..220402266,2	K562	blood:

Variant related genes	Relation type
ENSG00000270708	TF binding region

rs_ID	r²[population]
rs10495144	0.85[AMR][1000 genomes]
rs10863535	0.83[LWK][hapmap];0.94[MKK][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11118502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12066759	0.85[AMR][1000 genomes]
rs12066803	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12070983	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2491268	0.85[AMR][1000 genomes]
rs2667960	0.85[AMR][1000 genomes]
rs2667961	0.85[AMR][1000 genomes]
rs2667962	0.85[AMR][1000 genomes]
rs2667963	0.85[AMR][1000 genomes]
rs2808010	0.85[AMR][1000 genomes]
rs2808017	0.85[AMR][1000 genomes]
rs4445474	0.85[AMR][1000 genomes]
rs9431240	0.87[AMR][1000 genomes]

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220325000-220398400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:220366200-220392000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:220373200-220392400	Weak transcription	Fetal Brain Female	brain
4	chr1:220374400-220392200	Weak transcription	Fetal Heart	heart
5	chr1:220374600-220407600	Weak transcription	Fetal Brain Male	brain
6	chr1:220375600-220393400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:220378800-220398200	Weak transcription	Psoas Muscle	Psoas
8	chr1:220378800-220398200	Weak transcription	Small Intestine	intestine
9	chr1:220379000-220392600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:220379000-220393200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:220379000-220418200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:220379200-220392400	Weak transcription	NHDF-Ad	bronchial
13	chr1:220379200-220392600	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:220379200-220397600	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:220379200-220400400	Weak transcription	Right Ventricle	heart
16	chr1:220379200-220409600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:220379200-220410800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:220379200-220422600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:220380400-220393600	Weak transcription	Lung	lung
20	chr1:220380400-220398200	Weak transcription	Brain Anterior Caudate	brain
21	chr1:220380400-220400800	Weak transcription	Spleen	Spleen
22	chr1:220381200-220422000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:220384000-220399400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:220384200-220392200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:220384200-220392400	Weak transcription	K562	blood
26	chr1:220384200-220392600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:220384200-220392600	Weak transcription	Brain Germinal Matrix	brain
28	chr1:220384200-220393400	Weak transcription	Thymus	Thymus
29	chr1:220384200-220396400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:220384200-220398200	Weak transcription	Aorta	Aorta
31	chr1:220384200-220398200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:220384200-220398600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:220384200-220398800	Weak transcription	Fetal Intestine Small	intestine
34	chr1:220384200-220400000	Weak transcription	Pancreas	Pancrea
35	chr1:220384200-220400200	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:220384200-220400400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:220384200-220402800	Weak transcription	NHLF	lung
38	chr1:220384200-220404400	Weak transcription	Ovary	ovary
39	chr1:220384200-220408800	Weak transcription	A549	lung
40	chr1:220384200-220420600	Weak transcription	Fetal Kidney	kidney
41	chr1:220384200-220423000	Weak transcription	Esophagus	oesophagus
42	chr1:220384200-220425800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr1:220384400-220392400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:220384400-220398200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:220384400-220400200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr1:220384400-220413400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:220384600-220392600	Weak transcription	Brain Substantia Nigra	brain
48	chr1:220384600-220394600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:220384800-220392400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:220384800-220392400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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