Variant report

Variant	rs7512134
Chromosome Location	chr1:180531627-180531628
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180530082..180533605-chr1:180534162..180536876,3	K562	blood:
2	chr1:180530904..180533469-chr1:180554025..180555581,2	MCF-7	breast:
3	chr1:180511669..180514906-chr1:180530245..180533112,3	K562	blood:
4	chr1:180530731..180535452-chr1:180539258..180542430,4	K562	blood:
5	chr1:180529943..180534795-chr1:180578153..180581956,5	K562	blood:
6	chr1:180530185..180532877-chr1:180542986..180545564,3	K562	blood:
7	chr1:180520741..180525768-chr1:180529838..180532812,4	MCF-7	breast:
8	chr1:180470665..180473008-chr1:180530633..180533066,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135847	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10913975	0.81[GIH][hapmap]
rs10914035	0.95[ASN][1000 genomes]
rs10914038	0.95[ASN][1000 genomes]
rs12027839	0.87[ASN][1000 genomes]
rs12027878	0.87[ASN][1000 genomes]
rs12044653	0.87[ASN][1000 genomes]
rs12045365	0.85[ASN][1000 genomes]
rs12407684	0.85[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs12562357	0.83[CHD][hapmap]
rs1341924	0.81[GIH][hapmap]
rs3737584	0.81[GIH][hapmap]
rs4543756	0.81[GIH][hapmap]
rs4652509	0.87[ASN][1000 genomes]
rs58089956	0.87[ASN][1000 genomes]
rs6694454	0.86[ASN][1000 genomes]
rs6697232	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180516600-180536800	Weak transcription	Psoas Muscle	Psoas
2	chr1:180525200-180534400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:180529000-180531800	Enhancers	K562	blood
4	chr1:180529200-180532800	Enhancers	HSMMtube	muscle
5	chr1:180529200-180533000	Enhancers	Osteobl	bone
6	chr1:180529400-180532800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:180529600-180532800	Enhancers	NHEK	skin
8	chr1:180530000-180535000	Enhancers	Left Ventricle	heart
9	chr1:180530200-180532600	Enhancers	Aorta	Aorta
10	chr1:180530400-180531800	Weak transcription	Stomach Mucosa	stomach
11	chr1:180530600-180531800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:180530600-180531800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:180530600-180531800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:180530600-180532000	Weak transcription	HepG2	liver
15	chr1:180530600-180532400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:180530800-180531800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:180530800-180531800	Weak transcription	NH-A	brain
18	chr1:180530800-180532200	Enhancers	HSMM	muscle
19	chr1:180530800-180535200	Weak transcription	Pancreas	Pancrea
20	chr1:180531200-180531800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:180531200-180531800	Enhancers	Right Ventricle	heart
22	chr1:180531200-180532200	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:180531200-180532600	Enhancers	Hela-S3	cervix
24	chr1:180531400-180532600	Enhancers	A549	lung
25	chr1:180531400-180532800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:180531400-180532800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:180531400-180532800	Enhancers	HMEC	breast
28	chr1:180531400-180533000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:180531400-180537400	Enhancers	Fetal Brain Male	brain
30	chr1:180531600-180531800	Enhancers	Right Atrium	heart
31	chr1:180531600-180532200	Enhancers	Fetal Brain Female	brain
32	chr1:180531600-180532600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:180531600-180532800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:180531600-180532800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:180531600-180532800	Enhancers	Placenta	Placenta
36	chr1:180531600-180532800	Enhancers	NHLF	lung
37	chr1:180531600-180533000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:180531600-180533000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr1:180531600-180535000	Enhancers	Fetal Heart	heart

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