Variant report

Variant	rs12421959
Chromosome Location	chr11:73643110-73643111
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73497522..73500464-chr11:73642315..73643944,2	K562	blood:
2	chr11:73371739..73372578-chr11:73642460..73643367,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175581	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10160362	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10437752	0.94[ASN][1000 genomes]
rs11235919	0.82[ASN][1000 genomes]
rs11235940	0.81[ASN][1000 genomes]
rs11235948	0.86[ASN][1000 genomes]
rs11235956	0.87[ASN][1000 genomes]
rs12284235	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12287418	0.84[ASN][1000 genomes]
rs12291665	0.85[ASN][1000 genomes]
rs12420040	0.86[ASN][1000 genomes]
rs1670539	0.96[ASN][1000 genomes]
rs17132495	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067913	0.94[ASN][1000 genomes]
rs3741138	0.86[ASN][1000 genomes]
rs3741139	0.84[ASN][1000 genomes]
rs3926010	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73549968	0.84[ASN][1000 genomes]
rs935985	0.96[ASN][1000 genomes]
rs935988	0.98[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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73602400-73644800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:73617600-73646000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:73618000-73646400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:73625200-73647200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:73625600-73646400	Strong transcription	Liver	Liver
6	chr11:73626600-73647800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:73628000-73646200	Strong transcription	Fetal Intestine Small	intestine
8	chr11:73628800-73646400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:73631000-73647200	Weak transcription	Psoas Muscle	Psoas
10	chr11:73633200-73652400	Weak transcription	Small Intestine	intestine
11	chr11:73634400-73643800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:73634600-73645600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:73635000-73643600	Strong transcription	Fetal Stomach	stomach
14	chr11:73635000-73644000	Strong transcription	Fetal Intestine Large	intestine
15	chr11:73635000-73646400	Strong transcription	Fetal Muscle Leg	muscle
16	chr11:73637400-73644000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:73637400-73644200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr11:73637800-73644200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:73637800-73644400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:73637800-73645600	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:73638000-73645600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:73638800-73647200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:73639000-73645200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:73639000-73653000	Weak transcription	K562	blood
25	chr11:73639200-73645600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:73639200-73645600	Weak transcription	NHLF	lung
27	chr11:73639200-73650000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:73639400-73643200	Weak transcription	Fetal Brain Male	brain
29	chr11:73639400-73643600	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:73639400-73643600	Weak transcription	Fetal Lung	lung
31	chr11:73639400-73643800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:73639400-73643800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:73639400-73643800	Weak transcription	Colonic Mucosa	Colon
34	chr11:73639400-73645200	Weak transcription	Aorta	Aorta
35	chr11:73639400-73647200	Weak transcription	NHEK	skin
36	chr11:73639400-73648000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr11:73639400-73648000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:73639400-73648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:73639400-73653200	Weak transcription	Gastric	stomach
40	chr11:73639400-73668000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:73639600-73643400	Weak transcription	Fetal Heart	heart
42	chr11:73639600-73643400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr11:73639600-73643600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:73639600-73643600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:73639600-73644800	Weak transcription	HSMM	muscle
46	chr11:73639600-73645000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:73639600-73645800	Weak transcription	A549	lung
48	chr11:73639600-73648000	Weak transcription	Osteobl	bone
49	chr11:73639600-73648600	Weak transcription	Hela-S3	cervix
50	chr11:73639600-73648800	Weak transcription	Dnd41	blood

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