Variant report

Variant	rs11118508
Chromosome Location	chr1:220410206-220410207
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220403586..220405327-chr1:220408780..220410379,2	K562	blood:
2	chr1:220405526..220409117-chr1:220409485..220413749,4	K562	blood:
3	chr1:220378470..220380460-chr1:220408418..220411307,2	K562	blood:
4	chr1:220409924..220412280-chr1:220442735..220445695,2	K562	blood:

Variant related genes	Relation type
ENSG00000118873	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10863537	0.90[CEU][hapmap];0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs12402633	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12404532	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs12404566	0.82[EUR][1000 genomes]
rs12409065	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12411242	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12562531	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12568267	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1511695	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17565134	0.83[EUR][1000 genomes]
rs2048477	0.90[EUR][1000 genomes]
rs3767654	0.89[CEU][hapmap]
rs3814345	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4351641	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56074233	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57557703	0.82[EUR][1000 genomes]
rs59681037	0.82[EUR][1000 genomes]
rs72749210	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7526460	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541290	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7543828	0.90[EUR][1000 genomes]
rs7551804	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs866978	0.90[EUR][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:89 , 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	chr1:220379200-220410800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:220379200-220422600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:220381200-220422000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:220384200-220420600	Weak transcription	Fetal Kidney	kidney
6	chr1:220384200-220423000	Weak transcription	Esophagus	oesophagus
7	chr1:220384200-220425800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:220384400-220413400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:220384800-220417000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:220385400-220419400	Weak transcription	HUVEC	blood vessel
11	chr1:220393000-220441000	Weak transcription	NHDF-Ad	bronchial
12	chr1:220393200-220413400	Weak transcription	Fetal Heart	heart
13	chr1:220393400-220411400	Weak transcription	Fetal Brain Female	brain
14	chr1:220393800-220425800	Weak transcription	Gastric	stomach
15	chr1:220394000-220422600	Weak transcription	Thymus	Thymus
16	chr1:220398400-220420400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:220399000-220418400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:220399200-220414400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:220399600-220414600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:220400400-220423000	Weak transcription	Pancreas	Pancrea
21	chr1:220400600-220415600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:220400600-220422200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:220400800-220422200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:220401000-220425200	Weak transcription	Right Ventricle	heart
25	chr1:220401200-220418200	Weak transcription	Spleen	Spleen
26	chr1:220401200-220422800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:220401400-220420600	Weak transcription	Fetal Intestine Small	intestine
28	chr1:220401400-220422600	Weak transcription	Fetal Stomach	stomach
29	chr1:220401400-220422600	Weak transcription	Left Ventricle	heart
30	chr1:220401600-220425800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:220402200-220412600	Weak transcription	Psoas Muscle	Psoas
32	chr1:220402200-220420800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:220402600-220414800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:220403800-220415400	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:220403800-220423000	Weak transcription	Lung	lung
36	chr1:220404000-220425000	Weak transcription	NHLF	lung
37	chr1:220404600-220420800	Weak transcription	NHEK	skin
38	chr1:220405400-220412200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:220405400-220420800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:220405800-220420600	Weak transcription	HSMM	muscle
41	chr1:220405800-220422800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:220405800-220423000	Weak transcription	Aorta	Aorta
43	chr1:220406000-220410400	Weak transcription	Dnd41	blood
44	chr1:220406000-220410400	Weak transcription	GM12878-XiMat	blood
45	chr1:220406000-220414400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:220406000-220416600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:220406000-220416800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr1:220406000-220416800	Weak transcription	Ovary	ovary
49	chr1:220406000-220417200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr1:220406000-220418400	Weak transcription	Fetal Intestine Large	intestine

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