Variant report

Variant	rs2293298
Chromosome Location	chr7:64467194-64467195
allele	A/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	NFYA	chr7:64466713-64467415	Hela-S3	cervix:	n/a	chr7:64467143-64467156 chr7:64467144-64467154 chr7:64467142-64467156
2	SPI1	chr7:64466711-64467372	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:64466652-64467497	Hela-S3	cervix:	n/a	n/a
4	JUND	chr7:64466805-64467543	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:64466585-64467435	GM12892	blood:	n/a	n/a
6	TAF1	chr7:64466775-64467346	MCF-7	breast:	n/a	n/a
7	TCF7L2	chr7:64466607-64467291	Hela-S3	cervix:	n/a	n/a
8	ELF1	chr7:64466593-64467336	K562	blood:	n/a	chr7:64467079-64467090 chr7:64467080-64467089 chr7:64467079-64467090 chr7:64467077-64467090 chr7:64466842-64466854
9	REST	chr7:64466257-64467711	H1-neurons	neurons:	n/a	n/a
10	HEY1	chr7:64466378-64467833	HepG2	liver:	n/a	n/a
11	HEY1	chr7:64466466-64467360	HepG2	liver:	n/a	n/a
12	SP2	chr7:64466861-64467310	K562	blood:	n/a	n/a
13	POLR2A	chr7:64466542-64467461	NB4	blood:	n/a	n/a
14	POLR2A	chr7:64466555-64467667	GM19099	blood:	n/a	n/a
15	PML	chr7:64466791-64467292	MCF-7	breast:	n/a	n/a
16	MYBL2	chr7:64466686-64467391	HepG2	liver:	n/a	n/a
17	YY1	chr7:64466573-64467364	H1-hESC	embryonic stem cell:	n/a	chr7:64466747-64466759 chr7:64466878-64466887
18	POLR2A	chr7:64466836-64467284	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr7:64466496-64467384	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr7:64466472-64467401	K562	blood:	n/a	n/a
21	IRF1	chr7:64466840-64467344	K562	blood:	n/a	chr7:64466874-64466888
22	POLR2A	chr7:64466488-64467391	Hela-S3	cervix:	n/a	n/a
23	MAX	chr7:64466862-64467731	NB4	blood:	n/a	chr7:64466879-64466889
24	POLR2A	chr7:64466835-64467438	SK-N-MC	brain:	n/a	n/a
25	POLR2A	chr7:64466715-64467384	GM12891	blood:	n/a	n/a
26	BRCA1	chr7:64466907-64467254	HepG2	liver:	n/a	n/a
27	SP1	chr7:64466900-64467409	K562	blood:	n/a	chr7:64467163-64467175 chr7:64467164-64467178
28	POLR2A	chr7:64466688-64467344	ProgFib	skin:	n/a	n/a
29	POLR2A	chr7:64466586-64467292	HepG2	liver:	n/a	n/a
30	CEBPB	chr7:64466892-64467423	Hela-S3	cervix:	n/a	n/a
31	ELF1	chr7:64466466-64467527	MCF-7	breast:	n/a	chr7:64467079-64467090 chr7:64467080-64467089 chr7:64467079-64467090 chr7:64467077-64467090 chr7:64466842-64466854
32	NFYA	chr7:64467015-64467287	GM12878	blood:	n/a	chr7:64467143-64467156 chr7:64467144-64467154 chr7:64467142-64467156
33	POLR2A	chr7:64466821-64467230	HUVEC	blood vessel:	n/a	n/a
34	IRF3	chr7:64466968-64467322	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr7:64466795-64467767	HL-60	blood:	n/a	n/a
36	MAX	chr7:64466636-64467343	Hela-S3	cervix:	n/a	chr7:64466879-64466889
37	POLR2A	chr7:64466802-64467400	K562	blood:	n/a	n/a
38	POLR2A	chr7:64466663-64467411	HUVEC	blood vessel:	n/a	n/a
39	STAT5A	chr7:64466754-64467434	GM12878	blood:	n/a	chr7:64467253-64467261
40	MYBL2	chr7:64466666-64467539	HepG2	liver:	n/a	n/a
41	MAZ	chr7:64466658-64467306	Hela-S3	cervix:	n/a	chr7:64466879-64466889
42	POLR2A	chr7:64466522-64467377	ECC-1	luminal epithelium:	n/a	n/a
43	POU2F2	chr7:64466691-64467267	GM12891	blood:	n/a	n/a
44	YY1	chr7:64466529-64467316	K562	blood:	n/a	chr7:64466747-64466759 chr7:64466878-64466887
45	ELF1	chr7:64466790-64467343	HepG2	liver:	n/a	chr7:64467079-64467090 chr7:64467080-64467089 chr7:64467079-64467090 chr7:64467077-64467090 chr7:64466842-64466854
46	MYC	chr7:64466661-64467770	K562	blood:	n/a	chr7:64466879-64466889
47	TCF12	chr7:64466608-64467377	A549	lung:	n/a	chr7:64466821-64466828
48	CEBPD	chr7:64466676-64467215	K562	blood:	n/a	n/a
49	POLR2A	chr7:64466466-64467454	GM12878	blood:	n/a	n/a
50	POLR2A	chr7:64466507-64467588	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:64465846..64468983-chr7:64497347..64500243,4	MCF-7	breast:
2	chr7:64465739..64467675-chr7:64497142..64500012,3	MCF-7	breast:
3	chr6:2841734..2842242-chr7:64466509..64467464,2	Hela-S3	cervix:
4	chr1:174967994..174968690-chr7:64466746..64467302,2	Hela-S3	cervix:
5	chr7:64467103..64469967-chr7:64496870..64499849,2	K562	blood:
6	chr17:79008587..79009160-chr7:64466629..64467494,2	NB4	blood:

Variant related genes	Relation type
ZNF117	TF binding region
ERV3-1	TF binding region
ENSG00000021355	Chromatin interaction
ENSG00000239985	Chromatin interaction
ENSG00000116161	Chromatin interaction
ENSG00000175866	Chromatin interaction
ENSG00000234585	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11970968	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983495	0.84[AFR][1000 genomes]
rs1880470	0.93[AFR][1000 genomes]
rs28376343	0.85[AFR][1000 genomes]
rs28539451	0.82[AFR][1000 genomes]
rs3981821	1.00[JPT][hapmap];0.83[YRI][hapmap]
rs4310097	0.87[AFR][1000 genomes]
rs56654029	0.81[AFR][1000 genomes]
rs57532707	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58193114	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58376065	1.00[ASN][1000 genomes]
rs59899532	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60147175	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60719537	0.81[AFR][1000 genomes]
rs6954887	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957874	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966883	0.83[AFR][1000 genomes]
rs73363373	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73363392	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9638213	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9638419	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv888282	chr7:64299645-64511564	Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	esv3506582	chr7:64323055-64563984	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	esv3506583	chr7:64323055-64563984	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv1019180	chr7:64329889-64512842	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv888283	chr7:64343985-64511564	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	esv2752165	chr7:64345822-65208605	Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
13	nsv888284	chr7:64406439-64562139	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	nsv970505	chr7:64441807-64494987	ZNF genes & repeats Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv1033517	chr7:64443052-64942418	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
16	nsv538893	chr7:64443052-64942418	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
17	nsv1034625	chr7:64456197-64850413	Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
18	nsv1019089	chr7:64456197-64874187	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers 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 lncRNA	32 gene(s)	inside rSNPs	diseases
19	nsv1023699	chr7:64456197-64942418	Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
20	nsv517778	chr7:64462326-65326821	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64464800-64467800	Enhancers	Fetal Heart	heart
2	chr7:64465200-64467200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr7:64465200-64467200	Active TSS	Esophagus	oesophagus
4	chr7:64465400-64467400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:64465400-64467400	Active TSS	Brain Germinal Matrix	brain
6	chr7:64465600-64467200	Active TSS	Fetal Intestine Small	intestine
7	chr7:64465600-64467200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr7:64465600-64467200	Active TSS	NH-A	brain
9	chr7:64465600-64467400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr7:64465600-64467400	Active TSS	Right Atrium	heart
11	chr7:64465600-64467400	Active TSS	HepG2	liver
12	chr7:64465600-64467600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr7:64465600-64467600	Active TSS	Fetal Brain Female	brain
14	chr7:64465800-64467400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:64465800-64467400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr7:64465800-64467400	Active TSS	GM12878-XiMat	blood
17	chr7:64465800-64467400	Active TSS	NHLF	lung
18	chr7:64465800-64467600	Active TSS	Brain Hippocampus Middle	brain
19	chr7:64466000-64467200	Active TSS	Placenta Amnion	Placenta Amnion
20	chr7:64466000-64467200	Active TSS	Right Ventricle	heart
21	chr7:64466000-64467200	Active TSS	HMEC	breast
22	chr7:64466000-64467400	Active TSS	H1 Cell Line	embryonic stem cell
23	chr7:64466000-64467400	Active TSS	H9 Cell Line	embryonic stem cell
24	chr7:64466000-64467400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:64466000-64467400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:64466000-64467400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:64466000-64467400	Active TSS	Colonic Mucosa	Colon
28	chr7:64466000-64467400	Active TSS	Fetal Intestine Large	intestine
29	chr7:64466000-64467400	Active TSS	Ovary	ovary
30	chr7:64466000-64467400	Active TSS	HSMM	muscle
31	chr7:64466000-64467400	Active TSS	HSMMtube	muscle
32	chr7:64466000-64467400	Active TSS	NHDF-Ad	bronchial
33	chr7:64466000-64467600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr7:64466000-64467600	Active TSS	Fetal Kidney	kidney
35	chr7:64466000-64467600	Active TSS	A549	lung
36	chr7:64466200-64467200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:64466200-64467200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:64466200-64467200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr7:64466200-64467200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:64466200-64467200	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr7:64466200-64467200	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr7:64466200-64467200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:64466200-64467200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:64466200-64467200	Active TSS	Fetal Muscle Trunk	muscle
45	chr7:64466200-64467200	Active TSS	Fetal Muscle Leg	muscle
46	chr7:64466200-64467200	Active TSS	Placenta	Placenta
47	chr7:64466200-64467200	Active TSS	Fetal Stomach	stomach
48	chr7:64466200-64467200	Active TSS	Fetal Thymus	thymus
49	chr7:64466200-64467400	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr7:64466200-64467400	Active TSS	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links