Variant report

Variant	rs1169074
Chromosome Location	chr12:122335334-122335335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122334878..122337847-chr12:122344073..122346557,2	MCF-7	breast:
2	chr12:122331642..122333879-chr12:122334386..122336333,3	MCF-7	breast:
3	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:
4	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
5	chr12:122334355..122337621-chr12:122337632..122340703,3	K562	blood:
6	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000239082	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1720035	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2928282	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs895960	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 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	chr12:122327400-122340800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122327600-122340600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:122327800-122337400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:122327800-122341000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:122328200-122335800	Weak transcription	Psoas Muscle	Psoas
6	chr12:122328200-122339200	Weak transcription	Right Atrium	heart
7	chr12:122328200-122340000	Weak transcription	Fetal Heart	heart
8	chr12:122328200-122355600	Weak transcription	Fetal Brain Male	brain
9	chr12:122328400-122355600	Strong transcription	Fetal Stomach	stomach
10	chr12:122329600-122355800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr12:122329600-122355800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:122329800-122344600	Strong transcription	Primary T cells from cord blood	blood
13	chr12:122329800-122355000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:122330400-122355800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr12:122330600-122353800	Strong transcription	Fetal Muscle Leg	muscle
16	chr12:122331000-122355000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:122331600-122344200	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:122331600-122355600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:122331800-122351800	Strong transcription	Dnd41	blood
20	chr12:122332000-122335800	Weak transcription	Esophagus	oesophagus
21	chr12:122332000-122337400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:122332000-122344400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:122332000-122350400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr12:122332000-122354600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr12:122332000-122356600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:122332200-122342000	Strong transcription	Primary hematopoietic stem cells	blood
27	chr12:122332200-122344400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:122332200-122349600	Strong transcription	Fetal Brain Female	brain
29	chr12:122332200-122351000	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:122332400-122335600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:122332400-122335800	Strong transcription	Adipose Nuclei	Adipose
32	chr12:122332400-122336400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:122332400-122337200	Strong transcription	Osteobl	bone
34	chr12:122332400-122340400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:122332400-122340400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:122332400-122344400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:122332400-122348000	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:122332400-122349400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr12:122332400-122349400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:122332400-122350600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:122332400-122350800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:122332400-122355600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:122332400-122355600	Strong transcription	Fetal Intestine Small	intestine
44	chr12:122332400-122355800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:122332600-122335600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:122332600-122336000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:122332600-122338200	Strong transcription	Hela-S3	cervix
48	chr12:122332600-122340400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr12:122332600-122342200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr12:122332600-122344400	Strong transcription	Brain Anterior Caudate	brain

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