Variant report

Variant	rs694174
Chromosome Location	chr9:136631378-136631379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2510244	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2520002	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2797825	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2797826	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs478403	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs506278	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs556664	0.93[EUR][1000 genomes]
rs581622	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs582682	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs591797	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs591866	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs592252	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs592820	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs594130	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs653967	0.94[ASN][1000 genomes]
rs694913	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894081	chr9:136227260-136678954	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv894086	chr9:136281753-136657960	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv530972	chr9:136324358-136643044	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv870051	chr9:136459745-136656889	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats 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 lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv894114	chr9:136538798-136779153	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv428546	chr9:136541745-136720872	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv831745	chr9:136593702-136780273	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv894117	chr9:136600201-136716399	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv831746	chr9:136607829-136750740	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv466622	chr9:136617292-136658816	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv615691	chr9:136617292-136658816	Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv894118	chr9:136624542-136678954	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv894119	chr9:136629399-136657960	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv894120	chr9:136629399-136662638	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv894121	chr9:136629399-136692787	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136620400-136632400	Weak transcription	NHDF-Ad	bronchial
2	chr9:136621200-136632600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:136623600-136631400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:136624000-136632800	Weak transcription	Colon Smooth Muscle	Colon
5	chr9:136624400-136631600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr9:136624800-136632800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr9:136624800-136639400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:136624800-136657800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr9:136625000-136632400	Weak transcription	A549	lung
10	chr9:136625800-136632800	Strong transcription	Liver	Liver
11	chr9:136626000-136632200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:136626000-136637400	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr9:136626200-136632400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:136626400-136636000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr9:136626600-136631400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr9:136626600-136632000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr9:136626600-136632400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:136626800-136632200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr9:136627000-136632000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr9:136627000-136632400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:136627000-136632600	Weak transcription	Aorta	Aorta
22	chr9:136627000-136632600	Weak transcription	Small Intestine	intestine
23	chr9:136627200-136632000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr9:136627400-136632800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:136627600-136632600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr9:136627600-136632600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr9:136627800-136631400	Strong transcription	Fetal Brain Female	brain
28	chr9:136628000-136631400	Strong transcription	Fetal Lung	lung
29	chr9:136628200-136631400	Strong transcription	Adipose Nuclei	Adipose
30	chr9:136628200-136632600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr9:136628600-136632800	Weak transcription	Thymus	Thymus
32	chr9:136628600-136633600	Strong transcription	HepG2	liver
33	chr9:136629000-136633000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr9:136629200-136632200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:136629200-136632400	Strong transcription	Primary B cells from cord blood	blood
36	chr9:136629200-136632400	Weak transcription	Brain Hippocampus Middle	brain
37	chr9:136629400-136632000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr9:136629400-136632000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr9:136629400-136632000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr9:136629400-136632200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:136629400-136632400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr9:136629400-136632400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr9:136629400-136632400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:136629400-136632400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:136629400-136632400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr9:136629400-136632400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr9:136629400-136632400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:136629400-136632400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr9:136629400-136632400	Weak transcription	Right Ventricle	heart
50	chr9:136629400-136632600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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