Variant report

Variant	rs360095
Chromosome Location	chr1:226065409-226065410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:226065320-226065751	K562	blood:	n/a	n/a
2	JUND	chr1:226065405-226065728	K562	blood:	n/a	n/a
3	RAD21	chr1:226065391-226065714	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr1:226065407-226065691	T-47D	breast:	n/a	n/a
5	RAD21	chr1:226065326-226065669	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr1:226065316-226065788	MCF-7	breast:	n/a	n/a
7	CTCF	chr1:226065382-226065663	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr1:226065325-226065733	A549	lung:	n/a	n/a
9	RAD21	chr1:226065394-226065724	IMR90	lung:	n/a	n/a
10	RAD21	chr1:226065292-226065867	H1-hESC	embryonic stem cell:	n/a	n/a
11	CBX3	chr1:226065362-226065754	K562	blood:	n/a	n/a
12	RCOR1	chr1:226065405-226065668	HepG2	liver:	n/a	n/a
13	ZNF143	chr1:226065391-226065709	Hela-S3	cervix:	n/a	chr1:226065480-226065495
14	GATA3	chr1:226065281-226065710	T-47D	breast:	n/a	n/a
15	CTCF	chr1:226065373-226065755	K562	blood:	n/a	n/a
16	NFIC	chr1:226065051-226065701	ECC-1	luminal epithelium:	n/a	n/a
17	CTCF	chr1:226065315-226065740	A549	lung:	n/a	n/a
18	ZNF143	chr1:226065402-226065721	H1-hESC	embryonic stem cell:	n/a	chr1:226065480-226065495
19	ZNF263	chr1:226065084-226065816	HEK293-T-REx	kidney:	n/a	n/a
20	CTCF	chr1:226065209-226065964	A549	lung:	n/a	n/a
21	CTCF	chr1:226065376-226065748	IMR90	lung:	n/a	n/a
22	RAD21	chr1:226065385-226065664	HepG2	liver:	n/a	n/a
23	RAD21	chr1:226065354-226065825	A549	lung:	n/a	n/a
24	CTCF	chr1:226065261-226065730	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr1:226065399-226065754	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr1:226065001-226065946	SK-N-SH	brain:	n/a	n/a
27	CTCF	chr1:226065320-226065470	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr1:226065292-226065870	K562	blood:	n/a	n/a
29	ZNF143	chr1:226065395-226065707	K562	blood:	n/a	chr1:226065480-226065495
30	MAX	chr1:226065405-226065574	HepG2	liver:	n/a	n/a
31	RFX5	chr1:226065349-226065493	HepG2	liver:	n/a	n/a
32	CTCF	chr1:226065333-226065722	K562	blood:	n/a	n/a
33	CTCF	chr1:226065381-226065756	GM12878	blood:	n/a	n/a
34	RAD21	chr1:226065311-226065856	MCF-7	breast:	n/a	n/a
35	RAD21	chr1:226065398-226065686	HepG2	liver:	n/a	n/a
36	RAD21	chr1:226065402-226065691	SK-N-SH_RA	brain:	n/a	n/a
37	RAD21	chr1:226065232-226065823	ECC-1	luminal epithelium:	n/a	n/a
38	RAD21	chr1:226065321-226065726	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr1:226065399-226065724	A549	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226063406..226070293-chr1:226107715..226112317,7	K562	blood:
2	chr1:225997762..225999546-chr1:226064729..226066981,2	MCF-7	breast:
3	chr1:226053163..226055606-chr1:226064903..226066639,3	K562	blood:
4	chr1:225839309..225842570-chr1:226062972..226068660,6	MCF-7	breast:
5	chr1:226033230..226036408-chr1:226061975..226066194,3	MCF-7	breast:
6	chr1:226061864..226068048-chr1:226072871..226078674,7	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM63A	TF binding region
ENSG00000143811	Chromatin interaction
ENSG00000154380	Chromatin interaction
ENSG00000196187	Chromatin interaction
ENSG00000143819	Chromatin interaction
ENSG00000242861	Chromatin interaction
ENSG00000243709	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs111990	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12041277	0.89[ASN][1000 genomes]
rs1237433	0.82[AMR][1000 genomes]
rs168618	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs168619	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2854452	0.84[ASN][1000 genomes]
rs360061	0.87[ASN][1000 genomes]
rs360063	0.80[ASN][1000 genomes]
rs360075	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs360077	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs360083	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs360088	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs360091	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs360092	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs360093	0.91[AFR][1000 genomes]
rs360094	0.91[AFR][1000 genomes]
rs360096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360097	0.91[AFR][1000 genomes]
rs360100	0.91[AFR][1000 genomes]
rs360101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs360102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs360103	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv520628	chr1:226026406-226093362	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr1:226033800-226067400	Strong transcription	H9 Cell Line	embryonic stem cell
2	chr1:226036800-226066600	Weak transcription	Fetal Brain Male	brain
3	chr1:226038800-226065800	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:226044600-226065800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:226050200-226068600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:226051800-226066400	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr1:226054400-226065600	Strong transcription	Fetal Stomach	stomach
8	chr1:226054400-226065800	Weak transcription	HUVEC	blood vessel
9	chr1:226054600-226065800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:226054800-226065800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr1:226055000-226065600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr1:226055000-226066600	Weak transcription	Dnd41	blood
13	chr1:226058400-226067200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:226058600-226065600	Strong transcription	K562	blood
15	chr1:226059600-226068800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:226059800-226066600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:226059800-226066800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
18	chr1:226060200-226068600	Weak transcription	NH-A	brain
19	chr1:226060600-226066400	Genic enhancers	Placenta	Placenta
20	chr1:226060800-226065600	Genic enhancers	Pancreas	Pancrea
21	chr1:226060800-226066000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
22	chr1:226062000-226067200	Genic enhancers	Fetal Intestine Large	intestine
23	chr1:226062200-226065600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:226062200-226065800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:226062800-226066400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr1:226062800-226066600	Genic enhancers	Fetal Thymus	thymus
27	chr1:226062800-226067000	Genic enhancers	Fetal Intestine Small	intestine
28	chr1:226063000-226066400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr1:226063000-226066600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:226063000-226068200	Genic enhancers	Fetal Muscle Leg	muscle
31	chr1:226063200-226065600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr1:226063200-226065600	Weak transcription	Small Intestine	intestine
33	chr1:226063200-226068200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:226063400-226067800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:226063600-226067000	Enhancers	Colonic Mucosa	Colon
36	chr1:226064000-226065600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:226064000-226065800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:226064200-226066600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr1:226064200-226068000	Weak transcription	NHEK	skin
40	chr1:226064400-226065600	Strong transcription	Thymus	Thymus
41	chr1:226064400-226067800	Weak transcription	HMEC	breast
42	chr1:226064600-226065600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:226064600-226065600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:226064600-226065600	Strong transcription	Hela-S3	cervix
45	chr1:226064600-226065800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:226064600-226067200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:226064600-226067200	Enhancers	Fetal Heart	heart
48	chr1:226064600-226067400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:226064800-226065600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:226064800-226065600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links