Variant report

Variant	rs7302187
Chromosome Location	chr12:122299136-122299137
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122237722..122239509-chr12:122297633..122299963,2	MCF-7	breast:
2	chr12:122293214..122297138-chr12:122297451..122299741,3	K562	blood:
3	chr12:122231575..122234439-chr12:122297036..122301100,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000158104	Chromatin interaction
ENSG00000256811	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10840625	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12817002	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2707061	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3741591	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71456716	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71456717	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7969647	0.90[AMR][1000 genomes];0.93[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7302187	HPD	cis	Muscle Skeletal	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122295400-122300000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:122295400-122300400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:122295800-122299200	Weak transcription	K562	blood
4	chr12:122297000-122304200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:122297200-122299600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:122297200-122299600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:122297200-122299800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:122297400-122299400	Weak transcription	Fetal Lung	lung
9	chr12:122297400-122299600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:122297400-122299600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:122297400-122299600	Weak transcription	Brain Anterior Caudate	brain
12	chr12:122297400-122299600	Weak transcription	Placenta	Placenta
13	chr12:122297600-122299400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:122297600-122299400	Weak transcription	NH-A	brain
15	chr12:122297600-122299400	Weak transcription	Osteobl	bone
16	chr12:122297600-122299600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:122297600-122299600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:122297600-122299600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:122297600-122299600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:122297600-122299600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:122297600-122299800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:122297600-122299800	Weak transcription	Fetal Kidney	kidney
23	chr12:122297600-122304400	Weak transcription	NHDF-Ad	bronchial
24	chr12:122297800-122299200	Weak transcription	Fetal Stomach	stomach
25	chr12:122297800-122299400	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:122297800-122299600	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:122297800-122299600	Weak transcription	HSMM	muscle
28	chr12:122297800-122299600	Weak transcription	HSMMtube	muscle
29	chr12:122297800-122299800	Weak transcription	Ovary	ovary
30	chr12:122297800-122300400	Weak transcription	Fetal Intestine Small	intestine
31	chr12:122298000-122299600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:122298000-122300200	Enhancers	Liver	Liver
33	chr12:122298400-122299200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:122298400-122299400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr12:122298400-122299400	Weak transcription	Adipose Nuclei	Adipose
36	chr12:122298400-122299400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:122298400-122299600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:122298400-122299600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:122298400-122299600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:122298400-122300000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr12:122298400-122300000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:122298600-122299400	Weak transcription	Hela-S3	cervix
43	chr12:122298600-122299400	Enhancers	HepG2	liver
44	chr12:122298600-122299600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:122298600-122299600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:122298600-122299600	Weak transcription	NHLF	lung
47	chr12:122298600-122299800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:122298600-122299800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:122298600-122299800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:122298600-122301000	Weak transcription	Pancreas	Pancrea

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