Variant report

Variant	rs1109744
Chromosome Location	chr15:72081997-72081998
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	BCL3	chr15:72081788-72082308	GM12878	blood:	n/a	n/a
2	MAX	chr15:72081521-72082084	HepG2	liver:	n/a	n/a
3	MAX	chr15:72081834-72083127	MCF-7	breast:	n/a	n/a
4	NFATC1	chr15:72081789-72082365	GM12878	blood:	n/a	n/a
5	NFATC1	chr15:72081932-72082241	GM12878	blood:	n/a	n/a
6	PBX3	chr15:72081926-72082225	GM12878	blood:	n/a	n/a
7	MAX	chr15:72081841-72083092	A549	lung:	n/a	n/a
8	BCL3	chr15:72081908-72082285	GM12878	blood:	n/a	n/a
9	SUZ12	chr15:72081851-72082238	H1-hESC	embryonic stem cell:	n/a	n/a
10	STAT5A	chr15:72081900-72082258	GM12878	blood:	n/a	n/a
11	TCF3	chr15:72081840-72082175	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:71418567..71420752-chr15:72081777..72084193,2	MCF-7	breast:
2	chr15:72081235..72083430-chr15:72092419..72093932,2	MCF-7	breast:

Variant related genes	Relation type
NR2E3	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10468050	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1054259	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11633167	0.83[YRI][hapmap]
rs12101574	0.88[JPT][hapmap]
rs34679273	0.90[ASN][1000 genomes]
rs35171275	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3784310	0.82[YRI][hapmap]
rs6494968	0.88[JPT][hapmap]
rs6494973	0.82[YRI][hapmap]
rs7173835	0.83[ASN][1000 genomes]
rs7180325	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7402085	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7495064	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs7496582	0.83[YRI][hapmap]
rs8035263	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv904334	chr15:71737376-72177659	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer 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 target site	34 gene(s)	inside rSNPs	diseases
4	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv3449179	chr15:72081938-72082152	Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	1 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	chr15:72064400-72082000	Weak transcription	Pancreas	Pancrea
2	chr15:72064600-72082400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:72064600-72082400	Weak transcription	NHEK	skin
4	chr15:72070200-72082000	Weak transcription	Esophagus	oesophagus
5	chr15:72070200-72082400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:72070800-72082200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:72072000-72093200	Weak transcription	Fetal Stomach	stomach
8	chr15:72072800-72082400	Weak transcription	HSMMtube	muscle
9	chr15:72073200-72082000	Weak transcription	Fetal Kidney	kidney
10	chr15:72074600-72082000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:72076000-72082800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr15:72076000-72099000	Weak transcription	Right Atrium	heart
13	chr15:72076400-72084400	Weak transcription	Fetal Heart	heart
14	chr15:72076400-72084400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr15:72077200-72082000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:72079200-72082400	Weak transcription	HSMM	muscle
17	chr15:72079400-72085200	Enhancers	HUVEC	blood vessel
18	chr15:72080800-72084800	Enhancers	Fetal Intestine Small	intestine
19	chr15:72080800-72085200	Enhancers	Fetal Intestine Large	intestine
20	chr15:72080800-72085200	Enhancers	Placenta	Placenta
21	chr15:72081000-72082000	Enhancers	HepG2	liver
22	chr15:72081200-72083600	Enhancers	A549	lung
23	chr15:72081400-72085200	Enhancers	HMEC	breast
24	chr15:72081800-72082000	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr15:72081800-72083000	Enhancers	Duodenum Mucosa	Duodenum
26	chr15:72081800-72085200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:72081800-72085200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:72081800-72085200	Enhancers	Rectal Mucosa Donor 31	rectum

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