Variant report

Variant	rs4731458
Chromosome Location	chr7:128119122-128119123
allele	A/G
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	chr7:128119072-128119462	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128116465..128119803-chr7:128169321..128173196,4	MCF-7	breast:
2	chr7:128117849..128119350-chr7:128175808..128177783,2	K562	blood:

Variant related genes	Relation type
METTL2B	TF binding region
ENSG00000242588	Chromatin interaction
ENSG00000273270	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1014506	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs1053124	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1056633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17152072	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs1864233	1.00[CEU][hapmap];0.96[AMR][1000 genomes]
rs2288553	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs28364722	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs3097359	0.81[ASN][1000 genomes]
rs4552841	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4728109	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs4728127	1.00[AFR][1000 genomes]
rs4731447	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs4731456	0.88[AMR][1000 genomes]
rs4731457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4731470	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4731471	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4731495	1.00[AFR][1000 genomes]
rs5018787	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56734454	0.82[AMR][1000 genomes]
rs57271522	1.00[AFR][1000 genomes]
rs61192768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61556684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952886	0.96[AMR][1000 genomes]
rs72624969	0.98[AMR][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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv966883	chr7:128107081-128142581	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128117200-128120600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:128117400-128119800	Weak transcription	Lung	lung
3	chr7:128117400-128121200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:128117400-128136000	Weak transcription	Aorta	Aorta
5	chr7:128117600-128121000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:128117600-128128400	Weak transcription	Left Ventricle	heart
7	chr7:128117600-128134000	Weak transcription	Ovary	ovary
8	chr7:128117600-128135800	Weak transcription	Esophagus	oesophagus
9	chr7:128117800-128119200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:128117800-128119200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:128117800-128119200	Weak transcription	Placenta	Placenta
12	chr7:128117800-128119400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:128117800-128119400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:128117800-128119400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:128117800-128119800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:128117800-128120400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:128117800-128121000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:128117800-128121000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:128117800-128121000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:128117800-128121200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:128117800-128121200	Weak transcription	Primary B cells from cord blood	blood
22	chr7:128117800-128121400	Weak transcription	Spleen	Spleen
23	chr7:128117800-128123200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:128117800-128128400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr7:128117800-128133600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:128117800-128133800	Weak transcription	Thymus	Thymus
27	chr7:128117800-128134600	Weak transcription	Gastric	stomach
28	chr7:128117800-128135800	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:128117800-128136200	Weak transcription	Stomach Mucosa	stomach
30	chr7:128117800-128137200	Weak transcription	Brain Angular Gyrus	brain
31	chr7:128117800-128137200	Weak transcription	Brain Substantia Nigra	brain
32	chr7:128117800-128140000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:128117800-128140800	Weak transcription	Psoas Muscle	Psoas
34	chr7:128117800-128141200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:128117800-128142800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:128117800-128162800	Weak transcription	Pancreas	Pancrea
37	chr7:128117800-128163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:128118000-128119200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:128118000-128119200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:128118000-128119200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr7:128118000-128119200	Weak transcription	Fetal Lung	lung
42	chr7:128118000-128119400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:128118000-128119400	Weak transcription	Primary T cells from cord blood	blood
44	chr7:128118000-128119400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:128118000-128119400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:128118000-128119400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:128118000-128119400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:128118000-128119400	Weak transcription	Adipose Nuclei	Adipose
49	chr7:128118000-128119400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:128118000-128119400	Weak transcription	A549	lung

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