Variant report

Variant	rs776694
Chromosome Location	chr15:42348801-42348802
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42273351..42275852-chr15:42348244..42350332,2	MCF-7	breast:
2	chr15:42281453..42282403-chr15:42348797..42349914,6	K562	blood:
3	chr15:42302207..42305036-chr15:42346580..42349042,2	K562	blood:
4	chr15:42284477..42286944-chr15:42348245..42350387,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188089	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12593957	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1474063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1599955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1618007	0.91[CHB][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1668542	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1668543	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1668544	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1668545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1668546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1668574	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1668587	0.98[ASN][1000 genomes]
rs1668588	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1668593	0.81[TSI][hapmap]
rs1668597	1.00[CEU][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1668598	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16972233	1.00[MEX][hapmap]
rs1712412	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1712413	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1712414	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1712415	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1712416	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1712427	0.90[CEU][hapmap];0.94[TSI][hapmap];0.87[YRI][hapmap];0.88[EUR][1000 genomes]
rs1712431	0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1712433	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1712438	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55818565	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58770075	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs632900	0.86[ASN][1000 genomes]
rs72727720	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72727721	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72727723	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72727724	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72727725	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs74008961	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs776686	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs776690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs776693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776699	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs776701	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs776724	0.92[CHD][hapmap]
rs8028419	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs810325	0.98[EUR][1000 genomes];0.95[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	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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 miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv471683	chr15:42334375-42502982	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1043641	chr15:42336584-42381240	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv904131	chr15:42343794-42390223	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv904132	chr15:42343794-42398046	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42341400-42349000	Weak transcription	Esophagus	oesophagus
2	chr15:42342200-42349000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:42342400-42349000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:42343000-42349000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:42343000-42349000	Weak transcription	Left Ventricle	heart
6	chr15:42343000-42349000	Weak transcription	Right Ventricle	heart
7	chr15:42343000-42357600	Weak transcription	Lung	lung
8	chr15:42345600-42349000	Weak transcription	Right Atrium	heart
9	chr15:42345800-42349000	Weak transcription	Pancreas	Pancrea
10	chr15:42345800-42349000	Weak transcription	Psoas Muscle	Psoas
11	chr15:42348200-42349000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr15:42348200-42349200	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr15:42348400-42349000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr15:42348600-42349000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr15:42348800-42349000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr15:42348800-42349000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr15:42348800-42349000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
18	chr15:42348800-42349000	Enhancers	Primary hematopoietic stem cells	blood
19	chr15:42348800-42349000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr15:42348800-42349000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:42348800-42349000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:42348800-42349000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr15:42348800-42349000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:42348800-42349000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:42348800-42349000	Enhancers	Brain Anterior Caudate	brain
26	chr15:42348800-42349000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:42348800-42349000	Enhancers	Brain Substantia Nigra	brain
28	chr15:42348800-42349000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr15:42348800-42349000	Enhancers	Placenta	Placenta
30	chr15:42348800-42349000	Enhancers	HMEC	breast
31	chr15:42348800-42349000	Bivalent Enhancer	HSMM	muscle
32	chr15:42348800-42349000	Enhancers	HUVEC	blood vessel
33	chr15:42348800-42349000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
34	chr15:42348800-42349000	Enhancers	NHEK	skin
35	chr15:42348800-42349200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:42348800-42349200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
37	chr15:42348800-42349200	Enhancers	HepG2	liver
38	chr15:42348800-42349400	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr15:42348800-42349400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr15:42348800-42349600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr15:42348800-42349800	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr15:42348800-42350200	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links