Variant report

Variant	rs1861000
Chromosome Location	chr7:120725354-120725355
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	TCF12	chr7:120723773-120725585	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr7:120723060-120727184	K562	blood:	n/a	n/a
3	MAX	chr7:120724757-120725456	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr7:120724935-120725415	K562	blood:	n/a	n/a
5	PML	chr7:120718354-120726378	K562	blood:	n/a	chr7:120719627-120719635 chr7:120725652-120725660 chr7:120724224-120724233 chr7:120723324-120723333
6	TEAD4	chr7:120724036-120725421	SK-N-SH	brain:	n/a	n/a
7	FOSL2	chr7:120724704-120725397	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr7:120723920-120725652	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr7:120724984-120725457	K562	blood:	n/a	n/a
10	POLR2A	chr7:120724798-120725486	U87	brain:	n/a	n/a
11	RCOR1	chr7:120724696-120725403	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr7:120724994-120725355	ProgFib	skin:	n/a	n/a
13	MAX	chr7:120724762-120725442	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr7:120717974-120727688	K562	blood:	n/a	n/a
15	CTCF	chr7:120725240-120725390	HMF	breast:	n/a	n/a
16	POLR2A	chr7:120725088-120725418	Gliobla	brain:	n/a	n/a
17	IRF1	chr7:120725255-120725506	K562	blood:	n/a	n/a
18	POLR2A	chr7:120722969-120726383	K562	blood:	n/a	n/a
19	SMC3	chr7:120724725-120725373	Hela-S3	cervix:	n/a	n/a
20	CCNT2	chr7:120724534-120725361	K562	blood:	n/a	n/a
21	MEF2A	chr7:120724569-120725427	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr7:120716166-120738240	K562	blood:	n/a	n/a
23	FOSL2	chr7:120724578-120725602	SK-N-SH	brain:	n/a	n/a
24	GTF2F1	chr7:120724728-120725404	Hela-S3	cervix:	n/a	n/a
25	JUND	chr7:120724582-120725445	SK-N-SH	brain:	n/a	n/a
26	EP300	chr7:120723081-120725489	SK-N-SH	brain:	n/a	chr7:120724222-120724231
27	POLR2A	chr7:120724469-120726114	K562	blood:	n/a	n/a
28	EP300	chr7:120723981-120725466	SK-N-SH	brain:	n/a	chr7:120724222-120724231
29	GATA3	chr7:120723833-120725453	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr7:120724341-120725942	K562	blood:	n/a	n/a
31	GATA3	chr7:120724569-120725446	SK-N-SH	brain:	n/a	n/a
32	HMGN3	chr7:120725124-120725396	K562	blood:	n/a	n/a
33	TEAD4	chr7:120723902-120725364	SK-N-SH	brain:	n/a	n/a
34	MXI1	chr7:120724838-120725424	Hela-S3	cervix:	n/a	n/a
35	PBX3	chr7:120723920-120725483	SK-N-SH	brain:	n/a	n/a
36	RXRA	chr7:120724600-120725492	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr7:120724548-120725381	HUVEC	blood vessel:	n/a	n/a
38	CHD2	chr7:120724447-120725365	K562	blood:	n/a	n/a
39	PBX3	chr7:120724556-120725378	SK-N-SH	brain:	n/a	n/a
40	JUND	chr7:120723709-120725566	SK-N-SH	brain:	n/a	chr7:120724224-120724231 chr7:120724223-120724231 chr7:120724223-120724231 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724084-120724095

No.	Distal block	Cell Line	Cell type
1	chr7:120624020..120645873-chr7:120713358..120727138,77	K562	blood:
2	chr7:120589600..120593889-chr7:120719099..120726294,8	K562	blood:
3	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:
4	chr7:120589475..120592677-chr7:120719093..120725846,11	K562	blood:
5	chr7:120701678..120704158-chr7:120722578..120725881,3	K562	blood:
6	chr7:120724755..120727043-chr8:49082625..49084125,2	K562	blood:

Variant related genes	Relation type
RNA5SP241	TF binding region
ENSG00000106034	Chromatin interaction
ENSG00000071243	Chromatin interaction
ENSG00000202225	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12673968	0.95[ASN][1000 genomes]
rs13223036	0.86[ASN][1000 genomes]
rs1554635	0.80[ASN][1000 genomes]
rs1861001	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1917113	0.95[ASN][1000 genomes]
rs2110281	1.00[ASN][1000 genomes]
rs2110282	0.95[ASN][1000 genomes]
rs2110283	0.98[ASN][1000 genomes]
rs2968345	0.98[ASN][1000 genomes]
rs2968349	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6466767	0.94[ASN][1000 genomes]
rs6466769	0.86[ASN][1000 genomes]
rs6954757	0.82[ASN][1000 genomes]
rs6956201	0.94[ASN][1000 genomes]
rs6961525	0.94[ASN][1000 genomes]
rs798933	0.95[ASN][1000 genomes]
rs798934	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv889118	chr7:120683751-120800837	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv889119	chr7:120688463-120800837	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv889120	chr7:120691417-120800837	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv428506	chr7:120719434-120891759	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 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	chr7:120711400-120790600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:120721600-120726200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr7:120722800-120726200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:120722800-120726800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:120722800-120727400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:120723000-120725400	Enhancers	HUVEC	blood vessel
7	chr7:120723000-120726800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:120723200-120725400	Flanking Active TSS	NH-A	brain
9	chr7:120723200-120727000	Enhancers	Rectal Smooth Muscle	rectum
10	chr7:120724000-120731200	Genic enhancers	K562	blood
11	chr7:120724200-120726200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:120724400-120725400	Flanking Active TSS	NHEK	skin
13	chr7:120724400-120725400	Flanking Active TSS	Osteobl	bone
14	chr7:120724400-120725600	Enhancers	Stomach Smooth Muscle	stomach
15	chr7:120724400-120725800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:120724400-120726800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:120724400-120727000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:120724400-120728200	Enhancers	Adipose Nuclei	Adipose
19	chr7:120724400-120739800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:120724600-120725800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:120724600-120725800	Flanking Active TSS	NHDF-Ad	bronchial
22	chr7:120724600-120726000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:120724600-120727000	Enhancers	Liver	Liver
24	chr7:120724600-120727000	Enhancers	Fetal Heart	heart
25	chr7:120724800-120725400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:120724800-120725400	Enhancers	Fetal Muscle Leg	muscle
27	chr7:120724800-120725400	Enhancers	Right Ventricle	heart
28	chr7:120724800-120725600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:120724800-120727200	Enhancers	Ovary	ovary
30	chr7:120725000-120725400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:120725000-120725400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:120725000-120725400	Enhancers	Left Ventricle	heart
33	chr7:120725000-120725400	Enhancers	Psoas Muscle	Psoas
34	chr7:120725000-120725400	Enhancers	Right Atrium	heart
35	chr7:120725000-120725400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr7:120725000-120725400	Flanking Active TSS	Hela-S3	cervix
37	chr7:120725000-120725400	Flanking Active TSS	HMEC	breast
38	chr7:120725000-120725800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:120725000-120725800	Enhancers	Fetal Stomach	stomach
40	chr7:120725000-120726400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr7:120725200-120725400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:120725200-120725400	Flanking Active TSS	Aorta	Aorta
43	chr7:120725200-120725400	Flanking Active TSS	HSMM	muscle
44	chr7:120725200-120725400	Flanking Active TSS	NHLF	lung
45	chr7:120725200-120725600	Active TSS	Colon Smooth Muscle	Colon
46	chr7:120725200-120725800	Flanking Active TSS	HSMMtube	muscle
47	chr7:120725200-120726000	Flanking Active TSS	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links