Variant report

Variant	rs2722193
Chromosome Location	chr12:104348867-104348868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104348297..104351124-chr12:104530392..104533056,3	MCF-7	breast:
2	chr12:104233713..104237034-chr12:104348727..104352026,4	MCF-7	breast:
3	chr12:104234122..104238773-chr12:104347839..104352988,5	MCF-7	breast:
4	chr12:104348328..104351209-chr12:104680724..104683661,2	K562	blood:
5	chr12:104347143..104348904-chr12:104363665..104366015,2	K562	blood:
6	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111696	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000257327	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs17034968	1.00[ASN][1000 genomes]
rs17034974	1.00[ASN][1000 genomes]
rs2249210	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2293621	1.00[ASN][1000 genomes]
rs2583259	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2722195	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763995	0.99[ASN][1000 genomes]
rs3763996	1.00[ASN][1000 genomes]
rs4135042	1.00[ASN][1000 genomes]
rs4135067	0.97[ASN][1000 genomes]
rs4135077	0.97[ASN][1000 genomes]
rs4964142	1.00[ASN][1000 genomes]
rs4964163	0.97[ASN][1000 genomes]
rs4964164	0.96[ASN][1000 genomes]
rs73177938	1.00[ASN][1000 genomes]
rs73177942	1.00[ASN][1000 genomes]
rs73177950	0.97[ASN][1000 genomes]
rs812498	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2722193	C12orf73	cis	Artery Aorta	GTEx
rs2722193	C12orf73	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104325600-104349800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:104327200-104349000	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:104327200-104349200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:104328400-104349000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:104329400-104349000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:104329600-104349200	Strong transcription	Fetal Lung	lung
7	chr12:104329800-104349000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:104330200-104349000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:104334000-104349600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:104337000-104350000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:104341200-104349400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:104341600-104349200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:104344400-104349600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:104344800-104349000	Weak transcription	Small Intestine	intestine
15	chr12:104346200-104349800	Weak transcription	Right Atrium	heart
16	chr12:104347200-104349600	Weak transcription	Fetal Heart	heart
17	chr12:104347400-104349000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:104347400-104349200	Weak transcription	Gastric	stomach
19	chr12:104347400-104349600	Weak transcription	Colonic Mucosa	Colon
20	chr12:104347400-104349800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:104347600-104349000	Genic enhancers	Dnd41	blood
22	chr12:104347600-104349600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr12:104347600-104349800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:104347600-104349800	Weak transcription	Esophagus	oesophagus
25	chr12:104347600-104350000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:104347800-104349600	Weak transcription	Stomach Mucosa	stomach
27	chr12:104347800-104349800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:104348000-104349400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:104348000-104349800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr12:104348200-104349000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:104348200-104349000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:104348200-104349000	Genic enhancers	K562	blood
33	chr12:104348200-104349200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr12:104348200-104349200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:104348200-104349600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:104348200-104349600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr12:104348200-104349600	Weak transcription	HSMM	muscle
38	chr12:104348200-104349600	Weak transcription	NHDF-Ad	bronchial
39	chr12:104348200-104349800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:104348400-104349000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:104348400-104349200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:104348400-104349200	Weak transcription	Adipose Nuclei	Adipose
43	chr12:104348400-104349200	Weak transcription	Colon Smooth Muscle	Colon
44	chr12:104348400-104349200	Weak transcription	Fetal Stomach	stomach
45	chr12:104348400-104349200	Weak transcription	Left Ventricle	heart
46	chr12:104348400-104349400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr12:104348400-104349400	Weak transcription	Primary B cells from cord blood	blood
48	chr12:104348400-104349400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:104348400-104349400	Weak transcription	Fetal Intestine Small	intestine
50	chr12:104348400-104349600	Weak transcription	H9 Cell Line	embryonic stem cell

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