Variant report

Variant	rs2293672
Chromosome Location	chr7:16504941-16504942
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16497680..16499781-chr7:16501198..16505001,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10085439	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10085489	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10085777	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10499469	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10950622	0.81[EUR][1000 genomes]
rs11761180	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763476	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11770398	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12532480	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12699795	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12699796	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12699797	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12699798	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12699799	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12699800	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699801	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12699802	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17619106	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2141804	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2301971	0.95[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs2528472	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2528473	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2704667	0.94[EUR][1000 genomes]
rs2704668	0.83[EUR][1000 genomes]
rs4506094	0.84[CEU][hapmap]
rs4719466	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4721504	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56271810	0.88[ASN][1000 genomes]
rs6461257	0.88[ASN][1000 genomes]
rs6950958	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6964287	0.87[ASN][1000 genomes]
rs73074739	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8180829	0.88[ASN][1000 genomes]
rs9791820	0.91[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	nsv1034151	chr7:16415497-16578081	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16501000-16505200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:16501000-16511600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:16501200-16505000	Weak transcription	Gastric	stomach
4	chr7:16502200-16506000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr7:16502600-16505000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:16502600-16505000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:16502600-16505000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:16502800-16505000	Active TSS	Fetal Lung	lung
9	chr7:16502800-16506200	Active TSS	Fetal Stomach	stomach
10	chr7:16503000-16506000	Active TSS	Fetal Kidney	kidney
11	chr7:16503000-16506200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr7:16503200-16505000	Active TSS	Fetal Brain Male	brain
13	chr7:16503200-16505600	Active TSS	K562	blood
14	chr7:16503200-16505800	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr7:16503200-16506000	Active TSS	Fetal Intestine Large	intestine
16	chr7:16503200-16506000	Active TSS	Fetal Muscle Leg	muscle
17	chr7:16503200-16506000	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr7:16503200-16506000	Active TSS	Right Atrium	heart
19	chr7:16503400-16505000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:16503400-16505000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:16503400-16506000	Active TSS	Colon Smooth Muscle	Colon
22	chr7:16503400-16506000	Active TSS	Stomach Smooth Muscle	stomach
23	chr7:16503600-16506000	Active TSS	Fetal Intestine Small	intestine
24	chr7:16503600-16506000	Active TSS	Fetal Muscle Trunk	muscle
25	chr7:16503600-16506200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:16503800-16505200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:16503800-16506000	Active TSS	Rectal Smooth Muscle	rectum
28	chr7:16504000-16505000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:16504000-16505200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:16504000-16505200	Weak transcription	Right Ventricle	heart
31	chr7:16504000-16505400	Enhancers	NHEK	skin
32	chr7:16504000-16505800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:16504200-16505000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:16504200-16505200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:16504200-16506200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:16504400-16505200	Weak transcription	Colonic Mucosa	Colon
37	chr7:16504600-16505000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:16504800-16505000	Flanking Active TSS	Fetal Brain Female	brain
39	chr7:16504800-16505200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:16504800-16505400	Bivalent/Poised TSS	Stomach Mucosa	stomach
41	chr7:16504800-16505600	Active TSS	Brain Angular Gyrus	brain
42	chr7:16504800-16505800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr7:16504800-16505800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr7:16504800-16505800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:16504800-16505800	Flanking Active TSS	Fetal Heart	heart
46	chr7:16504800-16506000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:16504800-16506000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:16504800-16506200	Flanking Active TSS	HMEC	breast

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