Variant report

Variant	rs4721056
Chromosome Location	chr7:12251262-12251263
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222886239..222887225-chr7:12250816..12251369,2	Hela-S3	cervix:
2	chr14:39572252..39573123-chr7:12250595..12251375,2	Hela-S3	cervix:
3	chr7:12250736..12251292-chr9:74383519..74384056,2	Hela-S3	cervix:
4	chr17:15554505..15555485-chr7:12250755..12251548,2	Hela-S3	cervix:
5	chr7:12251087..12251775-chr7:12361635..12362202,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251537	Chromatin interaction
ENSG00000266261	Chromatin interaction
ENSG00000258651	Chromatin interaction
ENSG00000186063	Chromatin interaction
ENSG00000100934	Chromatin interaction
ENSG00000162819	Chromatin interaction
ENSG00000135048	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1019306	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1019307	0.99[ASN][1000 genomes]
rs1019308	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1019309	0.99[ASN][1000 genomes]
rs1020005	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1020006	0.85[ASN][1000 genomes]
rs10234805	0.85[ASN][1000 genomes]
rs10278257	0.85[ASN][1000 genomes]
rs1060700	0.81[ASN][1000 genomes]
rs10950391	0.82[ASN][1000 genomes]
rs10950394	0.81[ASN][1000 genomes]
rs11509880	0.82[ASN][1000 genomes]
rs11971133	0.83[ASN][1000 genomes]
rs11974304	0.81[ASN][1000 genomes]
rs11974335	0.81[ASN][1000 genomes]
rs11981005	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12667950	0.81[ASN][1000 genomes]
rs12671250	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12699323	0.85[ASN][1000 genomes]
rs12699324	0.85[ASN][1000 genomes]
rs12699332	0.81[ASN][1000 genomes]
rs13229988	0.81[ASN][1000 genomes]
rs13230513	0.81[ASN][1000 genomes]
rs1435524	0.82[ASN][1000 genomes]
rs1435525	0.82[ASN][1000 genomes]
rs1435526	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1435527	0.82[ASN][1000 genomes]
rs1435543	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1468801	0.81[ASN][1000 genomes]
rs1468802	0.81[ASN][1000 genomes]
rs1468803	0.81[ASN][1000 genomes]
rs1468804	0.81[ASN][1000 genomes]
rs1548882	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2043539	0.85[ASN][1000 genomes]
rs2098363	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2160269	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2356063	0.84[EUR][1000 genomes]
rs2356065	0.81[ASN][1000 genomes]
rs28549831	0.81[ASN][1000 genomes]
rs3800842	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3800844	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3800845	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3800847	0.82[ASN][1000 genomes]
rs3807865	0.87[ASN][1000 genomes]
rs3823612	0.83[ASN][1000 genomes]
rs4719302	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4721055	0.85[EUR][1000 genomes]
rs4721058	0.81[ASN][1000 genomes]
rs4721059	0.81[ASN][1000 genomes]
rs4721060	0.81[ASN][1000 genomes]
rs4721061	0.81[ASN][1000 genomes]
rs5011431	0.81[ASN][1000 genomes]
rs5011432	0.94[ASN][1000 genomes]
rs5011433	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5011434	0.81[ASN][1000 genomes]
rs5011436	0.81[ASN][1000 genomes]
rs6415232	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6460892	0.85[EUR][1000 genomes]
rs6460895	0.85[ASN][1000 genomes]
rs6460896	0.86[ASN][1000 genomes]
rs6460897	0.86[ASN][1000 genomes]
rs6460898	0.84[ASN][1000 genomes]
rs6460899	0.85[ASN][1000 genomes]
rs6460900	0.85[ASN][1000 genomes]
rs6460901	0.85[ASN][1000 genomes]
rs6460902	0.85[ASN][1000 genomes]
rs6460903	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6943125	0.86[EUR][1000 genomes]
rs6947327	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6966757	0.81[ASN][1000 genomes]
rs6966915	0.81[ASN][1000 genomes]
rs6974465	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7781670	0.99[ASN][1000 genomes]
rs7785087	0.85[ASN][1000 genomes]
rs7785189	0.85[ASN][1000 genomes]
rs7804234	0.81[ASN][1000 genomes]
rs7804433	0.81[ASN][1000 genomes]
rs7804736	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1021710	chr7:12164993-12251790	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12249800-12251400	Active TSS	Cortex derived primary cultured neurospheres	brain
2	chr7:12249800-12251400	Active TSS	Fetal Brain Female	brain
3	chr7:12249800-12251600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:12249800-12251600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr7:12249800-12251600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:12249800-12251600	Active TSS	Brain Angular Gyrus	brain
7	chr7:12249800-12251600	Active TSS	Brain Substantia Nigra	brain
8	chr7:12249800-12251600	Active TSS	Duodenum Mucosa	Duodenum
9	chr7:12249800-12251600	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr7:12249800-12251600	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr7:12249800-12251600	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr7:12249800-12251600	Active TSS	Stomach Smooth Muscle	stomach
13	chr7:12249800-12251600	Active TSS	NH-A	brain
14	chr7:12249800-12251800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:12249800-12251800	Active TSS	Brain Cingulate Gyrus	brain
16	chr7:12249800-12251800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:12249800-12252000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:12249800-12252200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:12249800-12252200	Active TSS	Right Atrium	heart
20	chr7:12249800-12253000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr7:12250000-12251400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:12250000-12251400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:12250000-12251600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:12250000-12251600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:12250000-12251600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:12250000-12251600	Active TSS	Liver	Liver
27	chr7:12250000-12251600	Active TSS	Colon Smooth Muscle	Colon
28	chr7:12250000-12251600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr7:12250000-12251600	Active TSS	Fetal Intestine Small	intestine
30	chr7:12250000-12251600	Active TSS	Fetal Lung	lung
31	chr7:12250000-12251600	Active TSS	Placenta	Placenta
32	chr7:12250000-12251600	Active TSS	Fetal Stomach	stomach
33	chr7:12250000-12251600	Active TSS	Placenta Amnion	Placenta Amnion
34	chr7:12250000-12251600	Active TSS	Psoas Muscle	Psoas
35	chr7:12250000-12251600	Active TSS	Stomach Mucosa	stomach
36	chr7:12250000-12251600	Active TSS	Thymus	Thymus
37	chr7:12250000-12251600	Active TSS	Hela-S3	cervix
38	chr7:12250000-12251600	Active TSS	HSMMtube	muscle
39	chr7:12250000-12251600	Active TSS	NHEK	skin
40	chr7:12250000-12251800	Active TSS	H1 Cell Line	embryonic stem cell
41	chr7:12250000-12251800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr7:12250000-12251800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:12250000-12251800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:12250000-12251800	Active TSS	Aorta	Aorta
45	chr7:12250000-12251800	Active TSS	Brain Hippocampus Middle	brain
46	chr7:12250000-12251800	Active TSS	Fetal Intestine Large	intestine
47	chr7:12250000-12251800	Active TSS	Left Ventricle	heart
48	chr7:12250000-12251800	Active TSS	Ovary	ovary
49	chr7:12250000-12251800	Active TSS	Right Ventricle	heart
50	chr7:12250000-12251800	Active TSS	Sigmoid Colon	Sigmoid Colon

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