Variant report

Variant	rs58712273
Chromosome Location	chr12:104349276-104349277
allele	A/G
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	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1165685	0.85[ASN][1000 genomes]
rs12820602	0.82[ASN][1000 genomes]
rs1305392	0.97[ASN][1000 genomes]
rs17034977	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2293617	0.92[AFR][1000 genomes]
rs2293618	0.90[AFR][1000 genomes]
rs2583252	0.96[ASN][1000 genomes]
rs34009709	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3751206	0.94[ASN][1000 genomes]
rs4135036	0.94[ASN][1000 genomes]
rs4135128	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4135137	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67703341	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67908919	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7300034	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73177940	0.94[ASN][1000 genomes]
rs73177955	0.82[ASN][1000 genomes]
rs73177956	0.81[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

No data

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	chr12:104334000-104349600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:104337000-104350000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:104341200-104349400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:104344400-104349600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:104346200-104349800	Weak transcription	Right Atrium	heart
7	chr12:104347200-104349600	Weak transcription	Fetal Heart	heart
8	chr12:104347400-104349600	Weak transcription	Colonic Mucosa	Colon
9	chr12:104347400-104349800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:104347600-104349600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:104347600-104349800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:104347600-104349800	Weak transcription	Esophagus	oesophagus
13	chr12:104347600-104350000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:104347800-104349600	Weak transcription	Stomach Mucosa	stomach
15	chr12:104347800-104349800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:104348000-104349400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:104348000-104349800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:104348200-104349600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:104348200-104349600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:104348200-104349600	Weak transcription	HSMM	muscle
21	chr12:104348200-104349600	Weak transcription	NHDF-Ad	bronchial
22	chr12:104348200-104349800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:104348400-104349400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:104348400-104349400	Weak transcription	Primary B cells from cord blood	blood
25	chr12:104348400-104349400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:104348400-104349400	Weak transcription	Fetal Intestine Small	intestine
27	chr12:104348400-104349600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:104348400-104349600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:104348400-104349600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr12:104348400-104349600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:104348400-104349600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:104348400-104349600	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:104348400-104349600	Weak transcription	Brain Substantia Nigra	brain
34	chr12:104348400-104349600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:104348400-104349600	Weak transcription	Thymus	Thymus
36	chr12:104348400-104349600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr12:104348400-104349800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr12:104348400-104349800	Weak transcription	Lung	lung
39	chr12:104348400-104349800	Weak transcription	Pancreas	Pancrea
40	chr12:104348400-104349800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr12:104348400-104350000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:104348400-104350000	Weak transcription	Aorta	Aorta
43	chr12:104348400-104350200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:104348600-104349400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:104348600-104349400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:104348600-104349400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:104348600-104349400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:104348600-104349400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:104348600-104349400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr12:104348600-104349400	Enhancers	Brain Germinal Matrix	brain

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