Variant report

Variant	rs2240366
Chromosome Location	chr22:30195525-30195526
allele	C/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	ESR1	chr22:30194614-30195549	T-47D	breast:	n/a	n/a
2	MAZ	chr22:30195155-30195565	K562	blood:	n/a	n/a
3	GATA3	chr22:30194412-30195781	MCF-7	breast:	n/a	chr22:30195594-30195603
4	CHD2	chr22:30195133-30195637	Hela-S3	cervix:	n/a	n/a
5	USF1	chr22:30195344-30195679	SK-N-SH_RA	brain:	n/a	chr22:30195589-30195600
6	POLR2A	chr22:30195191-30195597	HCT-116	colon:	n/a	n/a
7	CTCF	chr22:30195400-30195550	SAEC	small airway:	n/a	n/a
8	GATA1	chr22:30194832-30195689	K562	blood:	n/a	chr22:30195594-30195603
9	USF2	chr22:30195275-30195760	Hela-S3	cervix:	n/a	n/a
10	FOS	chr22:30195166-30195659	Hela-S3	cervix:	n/a	chr22:30195354-30195365
11	RAD21	chr22:30194964-30195647	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr22:30195400-30195550	AG10803	skin:	n/a	n/a
13	BACH1	chr22:30195202-30195718	K562	blood:	n/a	n/a
14	EP300	chr22:30195044-30195536	HepG2	liver:	n/a	chr22:30195338-30195352
15	FOSL2	chr22:30195169-30195641	MCF-7	breast:	n/a	n/a
16	TCF12	chr22:30194970-30195842	ECC-1	luminal epithelium:	n/a	chr22:30195507-30195514
17	GATA3	chr22:30194463-30195714	MCF-7	breast:	n/a	chr22:30195594-30195603
18	FOSL2	chr22:30195139-30195599	HepG2	liver:	n/a	n/a
19	USF1	chr22:30195418-30195701	SK-N-SH_RA	brain:	n/a	chr22:30195589-30195600
20	SIN3AK20	chr22:30195112-30195585	SK-N-SH	brain:	n/a	n/a
21	FOSL2	chr22:30194663-30195663	MCF-7	breast:	n/a	n/a
22	TBP	chr22:30195170-30195702	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr22:30194932-30195774	HCT-116	colon:	n/a	chr22:30195340-30195353
24	JUND	chr22:30194717-30195731	MCF-7	breast:	n/a	n/a
25	CTCF	chr22:30195420-30195570	HepG2	liver:	n/a	n/a
26	MAX	chr22:30194907-30195701	MCF-7	breast:	n/a	n/a
27	EP300	chr22:30194888-30195536	K562	blood:	n/a	chr22:30195338-30195352
28	NFE2	chr22:30195185-30195540	K562	blood:	n/a	chr22:30195356-30195365 chr22:30195355-30195370
29	POLR2A	chr22:30195128-30195554	K562	blood:	n/a	n/a
30	POLR2A	chr22:30195419-30195588	MCF-7	breast:	n/a	n/a
31	ELF1	chr22:30194991-30195803	MCF-7	breast:	n/a	n/a
32	USF2	chr22:30195348-30195544	HepG2	liver:	n/a	n/a
33	ZNF217	chr22:30194696-30195703	MCF-7	breast:	n/a	n/a
34	POLR2A	chr22:30195089-30195549	HepG2	liver:	n/a	n/a
35	MAX	chr22:30195102-30195530	K562	blood:	n/a	n/a
36	POLR2A	chr22:30195153-30195700	Hela-S3	cervix:	n/a	n/a
37	FOSL2	chr22:30195131-30195606	HepG2	liver:	n/a	n/a
38	CEBPB	chr22:30194942-30195816	HCT-116	colon:	n/a	chr22:30195340-30195353
39	EP300	chr22:30194723-30195628	MCF-7	breast:	n/a	chr22:30195338-30195352
40	RAD21	chr22:30195208-30195665	IMR90	lung:	n/a	n/a
41	RAD21	chr22:30195396-30195630	HepG2	liver:	n/a	n/a
42	MXI1	chr22:30195208-30195658	Hela-S3	cervix:	n/a	n/a
43	GABPA	chr22:30195094-30195715	A549	lung:	n/a	n/a
44	CTCF	chr22:30195440-30195590	WI-38	lung:	n/a	n/a
45	TAF1	chr22:30195262-30195558	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr22:30194895-30195898	U87	brain:	n/a	n/a
47	CTCF	chr22:30195500-30195650	NHDF-neo	bronchial:	n/a	n/a
48	MYC	chr22:30195224-30195534	MCF-7	breast:	n/a	n/a
49	CTCF	chr22:30195400-30195550	HEEpiC	esophagus:	n/a	n/a
50	ARID3A	chr22:30195198-30195651	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30161539..30163655-chr22:30194119..30196895,2	K562	blood:
2	chr22:30192738..30197507-chr22:30207918..30212414,7	MCF-7	breast:
3	chr22:30160556..30163537-chr22:30195523..30197184,3	MCF-7	breast:
4	chr22:30193309..30197041-chr22:30202385..30207780,5	MCF-7	breast:

Variant related genes	Relation type
ASCC2	TF binding region
ENSG00000100319	Chromatin interaction
ENSG00000100325	Chromatin interaction
ENSG00000184076	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10483156	0.80[CHB][hapmap]
rs1071962	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.88[ASN][1000 genomes]
rs12158466	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12159277	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166087	0.80[CHB][hapmap]
rs12169823	0.80[CHB][hapmap]
rs12627866	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12628028	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12628234	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12628294	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12628545	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs14115	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16987142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16988049	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17711461	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17711508	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2018808	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2232903	1.00[ASW][hapmap];0.85[LWK][hapmap]
rs2240364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2240365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs249399	0.96[ASN][1000 genomes]
rs249402	0.88[ASN][1000 genomes]
rs28730892	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788418	0.80[CHB][hapmap]
rs57122143	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58015017	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59394320	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5997518	0.92[EUR][1000 genomes]
rs5997519	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5997524	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6006241	0.87[EUR][1000 genomes]
rs6006242	1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6006247	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6006249	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6006250	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6006262	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60102307	0.81[EUR][1000 genomes]
rs60805530	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61616383	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61736786	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7285660	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7285800	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7287777	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7289250	0.85[EUR][1000 genomes]
rs7290420	0.90[GIH][hapmap];0.84[TSI][hapmap]
rs73392899	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394814	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73394831	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73394838	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs737721	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs737728	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs737906	0.80[CHB][hapmap]
rs737907	0.80[CHB][hapmap]
rs740116	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8138165	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9620935	0.80[CHB][hapmap]

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	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30181200-30196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:30181200-30196200	Weak transcription	Fetal Heart	heart
4	chr22:30182200-30217000	Strong transcription	Fetal Intestine Small	intestine
5	chr22:30182200-30222200	Strong transcription	Thymus	Thymus
6	chr22:30182800-30204600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr22:30182800-30204800	Strong transcription	Fetal Brain Female	brain
8	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
9	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
10	chr22:30183000-30221400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr22:30183200-30197000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr22:30183200-30230800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr22:30183400-30204800	Strong transcription	Brain Germinal Matrix	brain
14	chr22:30183400-30224000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr22:30183400-30230800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr22:30183800-30204800	Strong transcription	Ovary	ovary
17	chr22:30183800-30205000	Strong transcription	Fetal Intestine Large	intestine
18	chr22:30183800-30205200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr22:30183800-30224000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr22:30183800-30232200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr22:30184000-30198400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr22:30184000-30204800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr22:30184000-30222200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:30186600-30199800	Weak transcription	Fetal Kidney	kidney
25	chr22:30189400-30195600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr22:30189400-30196200	Weak transcription	Fetal Brain Male	brain
27	chr22:30189400-30197200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr22:30189600-30201000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr22:30189600-30201800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:30189800-30197600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:30189800-30201800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr22:30191000-30222200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr22:30191600-30196400	Genic enhancers	Placenta	Placenta
34	chr22:30191600-30198400	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr22:30192000-30196800	Weak transcription	Small Intestine	intestine
36	chr22:30192200-30197000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr22:30192400-30198200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr22:30192600-30195600	Genic enhancers	GM12878-XiMat	blood
39	chr22:30192600-30198400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr22:30192800-30196200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr22:30192800-30196200	Genic enhancers	Spleen	Spleen
42	chr22:30192800-30196400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr22:30192800-30196600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr22:30193000-30196200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr22:30193000-30196200	Genic enhancers	Duodenum Mucosa	Duodenum
46	chr22:30193200-30196200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr22:30193400-30196200	Genic enhancers	Brain Substantia Nigra	brain
48	chr22:30193400-30217200	Strong transcription	Fetal Thymus	thymus
49	chr22:30193600-30195800	Genic enhancers	Primary B cells from cord blood	blood
50	chr22:30194000-30196200	Genic enhancers	Esophagus	oesophagus

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