Variant report

Variant	rs4387757
Chromosome Location	chr2:11819844-11819845
allele	A/C
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	FOXP2	chr2:11819670-11820114	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11815154..11818041-chr2:11818833..11820427,2	MCF-7	breast:
2	chr2:11670570..11676286-chr2:11818745..11824828,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228496	TF binding region
ENSG00000196208	Chromatin interaction
ENSG00000134324	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10174816	1.00[CEU][hapmap]
rs11886664	1.00[CEU][hapmap]
rs11895768	1.00[CEU][hapmap]
rs13421766	1.00[CEU][hapmap]
rs13431704	1.00[CEU][hapmap]
rs13432243	1.00[CEU][hapmap]
rs16857649	1.00[CEU][hapmap]
rs16857699	1.00[CEU][hapmap]
rs6432217	1.00[CEU][hapmap]
rs6432218	1.00[CEU][hapmap]
rs6740248	1.00[CEU][hapmap]
rs6744817	1.00[CEU][hapmap]
rs6745921	1.00[CEU][hapmap]
rs6757729	1.00[CEU][hapmap]
rs7562399	1.00[CEU][hapmap]
rs7585718	1.00[CEU][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11816400-11823200	Enhancers	Ovary	ovary
2	chr2:11817600-11820000	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr2:11818000-11821200	Weak transcription	Right Ventricle	heart
4	chr2:11818000-11828200	Weak transcription	Right Atrium	heart
5	chr2:11818200-11822400	Enhancers	Psoas Muscle	Psoas
6	chr2:11818400-11828400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:11818400-11828400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:11818600-11820800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:11818600-11822600	Enhancers	Pancreas	Pancrea
10	chr2:11818800-11820400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:11818800-11820400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:11818800-11821800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:11818800-11824000	Weak transcription	Spleen	Spleen
14	chr2:11819000-11820400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:11819000-11820600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:11819000-11820600	Weak transcription	Brain Substantia Nigra	brain
17	chr2:11819400-11821000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr2:11819400-11822000	Weak transcription	Brain Anterior Caudate	brain
19	chr2:11819400-11823000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:11819600-11820200	Enhancers	Hela-S3	cervix
21	chr2:11819600-11820800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:11819800-11820200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:11819800-11820400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:11819800-11820600	Enhancers	Gastric	stomach
25	chr2:11819800-11820800	Flanking Active TSS	HepG2	liver
26	chr2:11819800-11821000	Bivalent Enhancer	Fetal Stomach	stomach
27	chr2:11819800-11821200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:11819800-11821400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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