Variant report

Variant	rs11172140
Chromosome Location	chr12:57659706-57659707
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57520414..57522767-chr12:57657718..57660563,2	K562	blood:
2	chr12:57658837..57661579-chr12:57664841..57666423,2	K562	blood:
3	chr12:57658881..57661779-chr12:57662023..57664965,2	K562	blood:

Variant related genes	Relation type
ENSG00000123384	Chromatin interaction
ENSG00000179912	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10876968	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876971	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10876973	0.85[EUR][1000 genomes]
rs10876974	0.85[EUR][1000 genomes]
rs11172142	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11172155	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11614077	0.87[EUR][1000 genomes]
rs11830804	0.85[EUR][1000 genomes]
rs12227309	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28473132	0.91[EUR][1000 genomes]
rs3204635	0.92[AFR][1000 genomes]
rs36050407	0.85[EUR][1000 genomes]
rs6581138	0.84[EUR][1000 genomes]
rs7133572	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7302906	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7963352	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7966846	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7976512	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57638800-57673600	Weak transcription	Stomach Mucosa	stomach
2	chr12:57646000-57667600	Strong transcription	Thymus	Thymus
3	chr12:57647200-57668200	Strong transcription	Fetal Stomach	stomach
4	chr12:57648400-57661600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:57652000-57662000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:57652000-57662000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:57652000-57673600	Weak transcription	Hela-S3	cervix
8	chr12:57653200-57660600	Weak transcription	HUVEC	blood vessel
9	chr12:57653200-57666800	Weak transcription	HMEC	breast
10	chr12:57653400-57671400	Weak transcription	Small Intestine	intestine
11	chr12:57653800-57660400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:57653800-57662400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:57654000-57660000	Weak transcription	Pancreas	Pancrea
14	chr12:57654000-57660400	Weak transcription	Fetal Kidney	kidney
15	chr12:57654000-57662000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:57654400-57665400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:57654600-57660000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:57654600-57666000	Weak transcription	Right Atrium	heart
19	chr12:57654800-57660200	Weak transcription	Brain Angular Gyrus	brain
20	chr12:57654800-57660400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:57654800-57664800	Weak transcription	K562	blood
22	chr12:57654800-57705400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:57655000-57660000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:57655000-57662000	Weak transcription	Aorta	Aorta
25	chr12:57655200-57660200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:57655600-57659800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:57655600-57660200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:57655600-57660400	Weak transcription	Left Ventricle	heart
29	chr12:57655800-57661400	Weak transcription	HepG2	liver
30	chr12:57655800-57674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:57656000-57660400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:57656000-57661800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:57656200-57660000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:57656200-57660000	Weak transcription	Spleen	Spleen
35	chr12:57656200-57660400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:57656200-57660600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:57656200-57661400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:57656200-57673800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:57656400-57660000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:57656400-57660200	Weak transcription	Right Ventricle	heart
41	chr12:57656600-57660000	Weak transcription	Lung	lung
42	chr12:57656600-57660200	Weak transcription	Ovary	ovary
43	chr12:57656600-57660400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr12:57656600-57660600	Weak transcription	Fetal Brain Female	brain
45	chr12:57656600-57662000	Weak transcription	A549	lung
46	chr12:57656600-57682800	Weak transcription	Fetal Brain Male	brain
47	chr12:57656800-57660200	Weak transcription	NHLF	lung
48	chr12:57656800-57660400	Weak transcription	Fetal Lung	lung
49	chr12:57656800-57660400	Weak transcription	NHEK	skin
50	chr12:57656800-57661000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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