Variant report

Variant	rs12887556
Chromosome Location	chr14:77966473-77966474
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	MYC	chr14:77966454-77966513	MCF-7	breast:	n/a	n/a
2	FOSL2	chr14:77966226-77966753	HepG2	liver:	n/a	chr14:77966540-77966548 chr14:77966540-77966547 chr14:77966541-77966552
3	POLR2A	chr14:77966207-77966716	HepG2	liver:	n/a	n/a
4	MAX	chr14:77966306-77966535	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:77966308-77966511	HepG2	liver:	n/a	n/a
6	JUND	chr14:77966300-77966652	HepG2	liver:	n/a	chr14:77966540-77966548 chr14:77966540-77966547 chr14:77966541-77966552
7	POLR2A	chr14:77966186-77966622	HepG2	liver:	n/a	n/a
8	CHD2	chr14:77966274-77966671	HepG2	liver:	n/a	n/a
9	RXRA	chr14:77966247-77966702	HepG2	liver:	n/a	n/a
10	MXI1	chr14:77966342-77966631	HepG2	liver:	n/a	n/a
11	MAZ	chr14:77966304-77966568	HepG2	liver:	n/a	n/a
12	HEY1	chr14:77966024-77967040	HepG2	liver:	n/a	n/a
13	POLR2A	chr14:77966244-77966745	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:77966089-77966885	HepG2	liver:	n/a	n/a
15	EBF1	chr14:77966396-77966624	GM12878	blood:	n/a	n/a
16	REST	chr14:77966214-77966519	HepG2	liver:	n/a	n/a
17	POLR2A	chr14:77966251-77966733	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77924491..77927029-chr14:77963244..77966693,3	MCF-7	breast:
2	chr14:77786622..77788558-chr14:77966272..77968373,2	MCF-7	breast:

Variant related genes	Relation type
ISM2	TF binding region
ENSG00000100577	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000009830	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10145609	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs1063270	1.00[CHB][hapmap]
rs1063271	1.00[CHB][hapmap]
rs11159268	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11159269	1.00[CHB][hapmap]
rs11845884	1.00[ASN][1000 genomes]
rs12433806	1.00[CHB][hapmap]
rs12435437	1.00[CHB][hapmap]
rs12436626	1.00[CHB][hapmap]
rs12587525	0.85[YRI][hapmap]
rs12884353	0.87[EUR][1000 genomes]
rs17751319	1.00[CHB][hapmap]
rs17751370	1.00[CHB][hapmap]
rs17751562	1.00[CHB][hapmap]
rs17824358	1.00[CHB][hapmap]
rs2017446	0.84[EUR][1000 genomes]
rs2364602	1.00[CHB][hapmap]
rs3742728	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs3742729	1.00[CHB][hapmap]
rs3742731	1.00[CHB][hapmap]
rs3742732	1.00[CHB][hapmap]
rs4531669	1.00[CHB][hapmap]
rs6574383	1.00[CHB][hapmap]
rs741853	0.81[EUR][1000 genomes]
rs8003820	1.00[CHB][hapmap]
rs8007669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011528	1.00[CHB][hapmap]
rs8177539	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv3341035	chr14:77964024-77966572	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77964200-77966600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr14:77964200-77966600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr14:77965600-77977600	Weak transcription	Aorta	Aorta
4	chr14:77965800-77966600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr14:77965800-77966600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr14:77965800-77966600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:77965800-77967200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:77965800-77974600	Weak transcription	A549	lung
9	chr14:77966000-77966600	Flanking Bivalent TSS/Enh	HepG2	liver
10	chr14:77966000-77973400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr14:77966000-77977400	Weak transcription	HMEC	breast
12	chr14:77966200-77970600	Weak transcription	HSMM	muscle
13	chr14:77966400-77966600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr14:77966400-77966600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:77966400-77966600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
16	chr14:77966400-77966600	Bivalent/Poised TSS	Stomach Mucosa	stomach
17	chr14:77966400-77966800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
18	chr14:77966400-77966800	Enhancers	Placenta	Placenta
19	chr14:77966400-77972800	Weak transcription	Esophagus	oesophagus
20	chr14:77966400-77974000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:77966400-77976800	Weak transcription	Spleen	Spleen
22	chr14:77966400-77977000	Weak transcription	Pancreas	Pancrea
23	chr14:77966400-77977600	Weak transcription	Gastric	stomach

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