Variant report

Variant	rs11118509
Chromosome Location	chr1:220410815-220410816
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220405526..220409117-chr1:220409485..220413749,4	K562	blood:
2	chr1:220378470..220380460-chr1:220408418..220411307,2	K562	blood:
3	chr1:220409924..220412280-chr1:220442735..220445695,2	K562	blood:

Variant related genes	Relation type
ENSG00000118873	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10127631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779401	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10863539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11118506	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118513	0.98[EUR][1000 genomes]
rs11586671	0.98[EUR][1000 genomes]
rs12022336	0.91[ASN][1000 genomes]
rs12025326	0.91[ASN][1000 genomes]
rs12025702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12026270	0.91[ASN][1000 genomes]
rs12030504	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031256	0.82[ASN][1000 genomes]
rs12032536	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12032738	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12033612	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12037712	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs12039349	0.91[ASN][1000 genomes]
rs12040095	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12043920	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12045447	0.82[ASN][1000 genomes]
rs12086105	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12086760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28650887	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56357312	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6690426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6703091	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs73087829	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73095623	0.98[EUR][1000 genomes]
rs73095636	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73098540	0.82[ASN][1000 genomes]
rs73098550	0.82[ASN][1000 genomes]
rs73098551	0.82[ASN][1000 genomes]
rs73098553	0.82[ASN][1000 genomes]
rs73098567	0.82[ASN][1000 genomes]
rs73098569	0.91[ASN][1000 genomes]
rs73098579	0.91[ASN][1000 genomes]
rs874331	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4643	chr1:220397642-220442231	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220379000-220418200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:220379200-220422600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:220381200-220422000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:220384200-220420600	Weak transcription	Fetal Kidney	kidney
5	chr1:220384200-220423000	Weak transcription	Esophagus	oesophagus
6	chr1:220384200-220425800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:220384400-220413400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:220384800-220417000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:220385400-220419400	Weak transcription	HUVEC	blood vessel
10	chr1:220393000-220441000	Weak transcription	NHDF-Ad	bronchial
11	chr1:220393200-220413400	Weak transcription	Fetal Heart	heart
12	chr1:220393400-220411400	Weak transcription	Fetal Brain Female	brain
13	chr1:220393800-220425800	Weak transcription	Gastric	stomach
14	chr1:220394000-220422600	Weak transcription	Thymus	Thymus
15	chr1:220398400-220420400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:220399000-220418400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:220399200-220414400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:220399600-220414600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:220400400-220423000	Weak transcription	Pancreas	Pancrea
20	chr1:220400600-220415600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:220400600-220422200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:220400800-220422200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:220401000-220425200	Weak transcription	Right Ventricle	heart
24	chr1:220401200-220418200	Weak transcription	Spleen	Spleen
25	chr1:220401200-220422800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:220401400-220420600	Weak transcription	Fetal Intestine Small	intestine
27	chr1:220401400-220422600	Weak transcription	Fetal Stomach	stomach
28	chr1:220401400-220422600	Weak transcription	Left Ventricle	heart
29	chr1:220401600-220425800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:220402200-220412600	Weak transcription	Psoas Muscle	Psoas
31	chr1:220402200-220420800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:220402600-220414800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:220403800-220415400	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:220403800-220423000	Weak transcription	Lung	lung
35	chr1:220404000-220425000	Weak transcription	NHLF	lung
36	chr1:220404600-220420800	Weak transcription	NHEK	skin
37	chr1:220405400-220412200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:220405400-220420800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:220405800-220420600	Weak transcription	HSMM	muscle
40	chr1:220405800-220422800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:220405800-220423000	Weak transcription	Aorta	Aorta
42	chr1:220406000-220414400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:220406000-220416600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:220406000-220416800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:220406000-220416800	Weak transcription	Ovary	ovary
46	chr1:220406000-220417200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr1:220406000-220418400	Weak transcription	Fetal Intestine Large	intestine
48	chr1:220406000-220422000	Weak transcription	Liver	Liver
49	chr1:220406000-220422000	Weak transcription	HepG2	liver
50	chr1:220406000-220422200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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