Variant report

Variant	rs12420040
Chromosome Location	chr11:73645298-73645299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10160362	0.86[ASN][1000 genomes]
rs10437752	0.84[ASN][1000 genomes]
rs1122373	0.92[ASN][1000 genomes]
rs11235921	0.87[ASN][1000 genomes]
rs11235924	0.90[ASN][1000 genomes]
rs11235940	0.94[ASN][1000 genomes]
rs11235941	0.92[ASN][1000 genomes]
rs11235944	0.92[ASN][1000 genomes]
rs11235948	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235956	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12269892	0.89[ASN][1000 genomes]
rs12280222	0.90[ASN][1000 genomes]
rs12284230	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12284235	0.86[ASN][1000 genomes]
rs12284670	0.90[ASN][1000 genomes]
rs12287418	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12291665	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12294934	0.92[ASN][1000 genomes]
rs12295206	0.92[ASN][1000 genomes]
rs12421959	0.86[ASN][1000 genomes]
rs1670539	0.86[ASN][1000 genomes]
rs17132368	0.82[ASN][1000 genomes]
rs17132495	0.88[ASN][1000 genomes]
rs1976139	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2010583	0.92[ASN][1000 genomes]
rs2067913	0.84[ASN][1000 genomes]
rs3741138	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741139	0.98[ASN][1000 genomes]
rs3926010	0.86[ASN][1000 genomes]
rs56006060	0.90[ASN][1000 genomes]
rs56380005	0.90[ASN][1000 genomes]
rs58695771	0.90[ASN][1000 genomes]
rs637028	0.82[ASN][1000 genomes]
rs694103	0.83[ASN][1000 genomes]
rs7116620	0.90[ASN][1000 genomes]
rs7119602	0.92[ASN][1000 genomes]
rs73549968	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs935985	0.86[ASN][1000 genomes]
rs935988	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73617600-73646000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:73618000-73646400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr11:73625200-73647200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:73625600-73646400	Strong transcription	Liver	Liver
5	chr11:73626600-73647800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:73628000-73646200	Strong transcription	Fetal Intestine Small	intestine
7	chr11:73628800-73646400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:73631000-73647200	Weak transcription	Psoas Muscle	Psoas
9	chr11:73633200-73652400	Weak transcription	Small Intestine	intestine
10	chr11:73634600-73645600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:73635000-73646400	Strong transcription	Fetal Muscle Leg	muscle
12	chr11:73637800-73645600	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:73638000-73645600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:73638800-73647200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:73639000-73653000	Weak transcription	K562	blood
16	chr11:73639200-73645600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:73639200-73645600	Weak transcription	NHLF	lung
18	chr11:73639200-73650000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:73639400-73647200	Weak transcription	NHEK	skin
20	chr11:73639400-73648000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:73639400-73648000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:73639400-73648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:73639400-73653200	Weak transcription	Gastric	stomach
24	chr11:73639400-73668000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:73639600-73645800	Weak transcription	A549	lung
26	chr11:73639600-73648000	Weak transcription	Osteobl	bone
27	chr11:73639600-73648600	Weak transcription	Hela-S3	cervix
28	chr11:73639600-73648800	Weak transcription	Dnd41	blood
29	chr11:73639600-73649600	Weak transcription	NH-A	brain
30	chr11:73639600-73649800	Weak transcription	HMEC	breast
31	chr11:73640000-73649800	Weak transcription	Esophagus	oesophagus
32	chr11:73640400-73647000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:73640400-73655000	Weak transcription	Brain Germinal Matrix	brain
34	chr11:73640400-73659200	Weak transcription	HepG2	liver
35	chr11:73640600-73645400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr11:73640800-73645400	Weak transcription	Fetal Kidney	kidney
37	chr11:73640800-73646000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:73640800-73647000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr11:73640800-73647000	Weak transcription	Right Ventricle	heart
40	chr11:73640800-73648000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:73640800-73649400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:73640800-73652200	Weak transcription	Fetal Brain Female	brain
43	chr11:73640800-73667000	Weak transcription	Pancreas	Pancrea
44	chr11:73641000-73645800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:73641000-73648600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:73641400-73672200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr11:73641600-73646000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:73641800-73646400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr11:73641800-73646400	Strong transcription	Primary T cells from cord blood	blood
50	chr11:73641800-73646400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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