Variant report

Variant	rs10280613
Chromosome Location	chr7:16311996-16311997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16309917..16312167-chr7:16461370..16463570,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10226581	0.80[EUR][1000 genomes]
rs10240830	0.87[EUR][1000 genomes]
rs10247201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10269890	0.84[EUR][1000 genomes]
rs1358280	0.87[EUR][1000 genomes]
rs1527222	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17169279	0.87[EUR][1000 genomes]
rs17169285	0.82[EUR][1000 genomes]
rs17169301	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17169331	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17169363	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17169374	0.93[ASN][1000 genomes]
rs17169381	1.00[CEU][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2074632	1.00[CEU][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2240856	0.87[EUR][1000 genomes]
rs28386896	0.84[EUR][1000 genomes]
rs28695581	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57179130	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59789077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73291455	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73291465	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73291495	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73293103	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73294876	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7802994	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948950	chr7:16168925-16395434	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757214	chr7:16236162-16334228	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv34298	chr7:16251754-16324185	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1022388	chr7:16251992-16431864	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1017498	chr7:16262300-16313476	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1022814	chr7:16262300-16339988	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv470133	chr7:16269632-16312056	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16305200-16313200	Weak transcription	Fetal Lung	lung
2	chr7:16305600-16312800	Weak transcription	Gastric	stomach
3	chr7:16307200-16312800	Weak transcription	Ovary	ovary
4	chr7:16308800-16318000	Weak transcription	Left Ventricle	heart
5	chr7:16309200-16312000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:16310200-16313400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:16310400-16312400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:16310400-16312800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:16310400-16315400	ZNF genes & repeats	K562	blood
10	chr7:16310600-16312000	Enhancers	Primary hematopoietic stem cells	blood
11	chr7:16310600-16312000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:16310600-16312400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:16310600-16312600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:16310800-16312600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:16310800-16313200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:16311000-16312000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:16311000-16312200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:16311000-16312800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:16311000-16313200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr7:16311200-16312200	Enhancers	Brain Angular Gyrus	brain
21	chr7:16311200-16312200	Enhancers	Fetal Heart	heart
22	chr7:16311400-16312000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr7:16311400-16315600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:16311400-16318000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:16311600-16312000	Enhancers	HSMMtube	muscle
26	chr7:16311600-16312200	Enhancers	HMEC	breast
27	chr7:16311600-16312200	Enhancers	Osteobl	bone
28	chr7:16311600-16312400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr7:16311600-16312400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:16311600-16319000	Weak transcription	Aorta	Aorta
31	chr7:16311800-16312000	Enhancers	Fetal Stomach	stomach
32	chr7:16311800-16312200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:16311800-16312200	Enhancers	Brain Anterior Caudate	brain
34	chr7:16311800-16312200	Enhancers	HSMM	muscle

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