Variant report

Variant	rs62001897
Chromosome Location	chr7:150747650-150747651
allele	G/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	chr7:150746722-150748209	K562	blood:	n/a	n/a
2	POLR2A	chr7:150747209-150747674	A549	lung:	n/a	n/a
3	POLR2A	chr7:150747486-150747730	HepG2	liver:	n/a	n/a
4	MXI1	chr7:150747336-150748663	IMR90	lung:	n/a	n/a
5	POLR2A	chr7:150747076-150747719	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr7:150747229-150747865	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150064606..150067565-chr7:150746513..150748694,2	MCF-7	breast:

Variant related genes	Relation type
ASIC3	TF binding region
ENSG00000196456	Chromatin interaction
ENSG00000214022	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17545756	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41282730	0.96[EUR][1000 genomes]
rs4148845	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55902005	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58019625	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59397762	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6953514	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv889471	chr7:150700946-150751590	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv526410	chr7:150714812-150775306	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
12	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
13	nsv524928	chr7:150731698-150766799	Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
15	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
16	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
17	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
18	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
19	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
20	esv3422787	chr7:150745069-150747867	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	esv3361397	chr7:150747444-150749992	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150734000-150748000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr7:150734600-150747800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:150736400-150748000	Weak transcription	Psoas Muscle	Psoas
4	chr7:150736800-150753800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:150737800-150748200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:150738600-150749600	Weak transcription	K562	blood
7	chr7:150739600-150750000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:150740200-150753800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:150741400-150748000	Weak transcription	Left Ventricle	heart
10	chr7:150741400-150749400	Weak transcription	Brain Substantia Nigra	brain
11	chr7:150741600-150751200	Weak transcription	Primary B cells from cord blood	blood
12	chr7:150742600-150748000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr7:150742600-150754400	Weak transcription	Aorta	Aorta
14	chr7:150742800-150750200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:150743000-150748000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:150743200-150747800	Weak transcription	Dnd41	blood
17	chr7:150743200-150748000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr7:150743200-150748800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:150743400-150748000	Weak transcription	Esophagus	oesophagus
20	chr7:150743400-150748000	Weak transcription	Gastric	stomach
21	chr7:150743800-150747800	Weak transcription	Lung	lung
22	chr7:150743800-150748000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:150743800-150748000	Weak transcription	Pancreas	Pancrea
24	chr7:150743800-150748000	Weak transcription	Right Ventricle	heart
25	chr7:150743800-150749200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:150743800-150753800	Weak transcription	Liver	Liver
27	chr7:150744000-150748200	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:150744000-150748800	Weak transcription	Primary T cells from cord blood	blood
29	chr7:150744200-150748800	Weak transcription	Brain Angular Gyrus	brain
30	chr7:150744400-150748200	Weak transcription	Fetal Heart	heart
31	chr7:150744400-150751200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:150744400-150754000	Weak transcription	A549	lung
33	chr7:150744600-150748000	Weak transcription	HMEC	breast
34	chr7:150744800-150747800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:150744800-150748000	Weak transcription	Brain Anterior Caudate	brain
36	chr7:150744800-150748000	Weak transcription	Ovary	ovary
37	chr7:150744800-150754200	Weak transcription	Right Atrium	heart
38	chr7:150745200-150748000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:150745200-150754000	Weak transcription	HSMMtube	muscle
40	chr7:150745200-150754200	Weak transcription	NHDF-Ad	bronchial
41	chr7:150746000-150754000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:150746400-150748000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:150746600-150749200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr7:150747200-150749600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr7:150747600-150747800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:150747600-150747800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:150747600-150747800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin

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