Variant report

Variant	rs6838716
Chromosome Location	chr4:119276253-119276254
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	MAX	chr4:119276116-119276383	NB4	blood:	n/a	n/a
2	REST	chr4:119276221-119277079	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119199772..119201389-chr4:119276128..119279305,3	MCF-7	breast:
2	chr4:119198677..119205956-chr4:119272273..119279963,18	MCF-7	breast:

Variant related genes	Relation type
PRSS12	TF binding region
ENSG00000269893	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10000812	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1022287	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1022288	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1040105	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1110948	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13124806	0.82[ASN][1000 genomes]
rs1514657	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1514659	0.94[ASN][1000 genomes]
rs1810260	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2389620	0.88[ASN][1000 genomes]
rs4279285	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4546313	0.82[ASN][1000 genomes]
rs4833567	0.82[ASN][1000 genomes]
rs4833575	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4834679	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4834681	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs581739	0.83[ASN][1000 genomes]
rs582448	0.84[ASN][1000 genomes]
rs586073	0.83[ASN][1000 genomes]
rs586224	0.83[ASN][1000 genomes]
rs593966	0.83[ASN][1000 genomes]
rs597881	0.83[ASN][1000 genomes]
rs59799599	0.91[EUR][1000 genomes]
rs607961	0.82[ASN][1000 genomes]
rs608228	0.84[ASN][1000 genomes]
rs610222	0.82[ASN][1000 genomes]
rs613083	0.83[ASN][1000 genomes]
rs613443	0.83[ASN][1000 genomes]
rs615837	0.80[ASN][1000 genomes]
rs617140	0.84[ASN][1000 genomes]
rs62328865	0.83[ASN][1000 genomes]
rs62328871	0.84[ASN][1000 genomes]
rs625546	0.81[ASN][1000 genomes]
rs627249	0.84[ASN][1000 genomes]
rs641962	0.83[ASN][1000 genomes]
rs662086	0.83[ASN][1000 genomes]
rs674514	0.83[ASN][1000 genomes]
rs678177	0.82[ASN][1000 genomes]
rs6810739	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6828232	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs705838	0.89[ASN][1000 genomes]
rs705841	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7669243	0.98[ASN][1000 genomes]
rs7688951	0.89[EUR][1000 genomes]
rs788647	0.89[ASN][1000 genomes]
rs788650	0.89[ASN][1000 genomes]
rs788651	0.89[ASN][1000 genomes]
rs788655	0.89[ASN][1000 genomes]
rs788656	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs788658	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs788661	0.84[ASN][1000 genomes]
rs788662	0.83[ASN][1000 genomes]
rs788668	0.84[ASN][1000 genomes]
rs788669	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs871769	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs871770	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs908152	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv482277	chr4:119261543-119408886	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv461631	chr4:119261939-119308603	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv595331	chr4:119261939-119308603	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119275200-119278000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:119275200-119278400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:119275200-119284200	Weak transcription	NHDF-Ad	bronchial
4	chr4:119276000-119276400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:119276200-119276400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:119276200-119277000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:119276200-119277200	Weak transcription	Fetal Brain Male	brain
8	chr4:119276200-119283000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:119276200-119283000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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