Variant report

Variant	rs7612186
Chromosome Location	chr3:156434699-156434700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:156433389-156435640	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:156433055..156435190-chr3:156533377..156535196,2	MCF-7	breast:
2	chr3:156433421..156435985-chr3:156439013..156440942,2	K562	blood:

Variant related genes	Relation type
METTL15P1	TF binding region
ENSG00000240875	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11918032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11918873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11918949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11921057	1.00[EUR][1000 genomes]
rs11925276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12106760	1.00[EUR][1000 genomes]
rs12106846	1.00[EUR][1000 genomes]
rs12107929	1.00[AMR][1000 genomes]
rs12107942	1.00[AMR][1000 genomes]
rs12107991	1.00[EUR][1000 genomes]
rs12107994	1.00[EUR][1000 genomes]
rs16826541	1.00[AMR][1000 genomes]
rs16826543	1.00[AMR][1000 genomes]
rs16826610	1.00[EUR][1000 genomes]
rs56772168	1.00[EUR][1000 genomes]
rs57676345	1.00[EUR][1000 genomes]
rs6763863	1.00[AMR][1000 genomes]
rs6768485	1.00[AMR][1000 genomes]
rs6774975	1.00[EUR][1000 genomes]
rs6788106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6789293	1.00[EUR][1000 genomes]
rs72558059	1.00[AMR][1000 genomes]
rs73012043	1.00[EUR][1000 genomes]
rs73013921	1.00[EUR][1000 genomes]
rs73013929	1.00[EUR][1000 genomes]
rs73013931	1.00[EUR][1000 genomes]
rs73013985	1.00[EUR][1000 genomes]
rs73014000	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73015891	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73017741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73019707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73019709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73019730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73019732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73019733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73021795	1.00[EUR][1000 genomes]
rs73021801	1.00[EUR][1000 genomes]
rs73025844	1.00[EUR][1000 genomes]
rs73025863	1.00[EUR][1000 genomes]
rs73025882	1.00[EUR][1000 genomes]
rs73025895	1.00[EUR][1000 genomes]
rs73025901	1.00[EUR][1000 genomes]
rs73027741	1.00[EUR][1000 genomes]
rs73027753	1.00[EUR][1000 genomes]
rs7623810	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7631744	1.00[AMR][1000 genomes]
rs7645166	1.00[EUR][1000 genomes]
rs7652081	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428745	chr3:156405054-156577840	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156394000-156436000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:156395600-156438600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:156396600-156441000	Weak transcription	Lung	lung
4	chr3:156416000-156437000	Weak transcription	Pancreas	Pancrea
5	chr3:156416000-156443000	Weak transcription	Aorta	Aorta
6	chr3:156422800-156436400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:156422800-156436400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:156422800-156436400	Weak transcription	Placenta	Placenta
9	chr3:156422800-156437600	Weak transcription	Thymus	Thymus
10	chr3:156422800-156438600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:156422800-156442800	Weak transcription	Psoas Muscle	Psoas
12	chr3:156423000-156436000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr3:156423000-156443200	Weak transcription	Small Intestine	intestine
14	chr3:156423000-156445800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:156424000-156440800	Weak transcription	NHLF	lung
16	chr3:156424200-156436600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:156424200-156443000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr3:156424200-156445800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:156424400-156435000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:156424400-156436600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:156424400-156436600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr3:156424400-156438400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:156424400-156438400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:156424400-156438600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:156424400-156438600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:156424400-156438600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr3:156424800-156438400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:156425400-156434800	Weak transcription	Adipose Nuclei	Adipose
29	chr3:156425600-156435000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:156426000-156435000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr3:156426600-156446000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr3:156427600-156435400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr3:156428200-156438400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr3:156428400-156439200	Weak transcription	K562	blood
35	chr3:156428600-156445200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:156428800-156438600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:156429000-156434800	Weak transcription	Dnd41	blood
38	chr3:156429000-156435000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr3:156429000-156435000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr3:156429000-156435600	Weak transcription	Liver	Liver
41	chr3:156429000-156436000	Weak transcription	Stomach Mucosa	stomach
42	chr3:156429000-156436200	Weak transcription	Hela-S3	cervix
43	chr3:156429000-156438600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:156429000-156443000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr3:156429200-156438400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:156429200-156439000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr3:156429200-156439200	Weak transcription	NHDF-Ad	bronchial
48	chr3:156431000-156435200	Strong transcription	HMEC	breast
49	chr3:156431400-156434800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:156431400-156436000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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