Variant report

Variant	rs60730034
Chromosome Location	chr5:36921182-36921183
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36920129..36922816-chr5:36925625..36927920,2	MCF-7	breast:
2	chr5:36919106..36922235-chr5:36923697..36927353,5	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10941319	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11743833	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11744960	0.89[ASN][1000 genomes]
rs11745128	0.89[ASN][1000 genomes]
rs12153359	0.85[ASN][1000 genomes]
rs12187383	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12188075	0.83[EUR][1000 genomes]
rs12513653	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12516349	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12520272	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12520324	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12520562	0.81[ASN][1000 genomes]
rs12521488	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16903365	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16903373	0.89[ASN][1000 genomes]
rs16903403	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16903413	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16903419	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16903427	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16903429	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16903442	0.89[ASN][1000 genomes]
rs16903456	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16903466	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16903469	0.83[EUR][1000 genomes]
rs16903477	0.81[ASN][1000 genomes]
rs2365495	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2365838	0.89[ASN][1000 genomes]
rs3776588	0.94[ASN][1000 genomes]
rs3822471	0.94[ASN][1000 genomes]
rs56680779	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56999464	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57686895	0.89[ASN][1000 genomes]
rs60633925	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60643425	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61638663	0.88[ASN][1000 genomes]
rs62654863	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv830264	chr5:36887002-36941494	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36895800-36928600	Weak transcription	HSMM	muscle
2	chr5:36899000-36926400	Weak transcription	Gastric	stomach
3	chr5:36905200-36927800	Weak transcription	Psoas Muscle	Psoas
4	chr5:36907400-36928600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:36907400-36938200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:36910200-36928000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:36911200-36928600	Weak transcription	A549	lung
8	chr5:36911600-36928600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:36913000-36925800	Weak transcription	Primary T cells from cord blood	blood
10	chr5:36913800-36931400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr5:36918800-36921800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr5:36919000-36921800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:36919000-36923200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr5:36919400-36921800	Enhancers	Fetal Heart	heart
15	chr5:36919600-36921600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr5:36919600-36928000	Weak transcription	Ovary	ovary
17	chr5:36919600-36928000	Weak transcription	Small Intestine	intestine
18	chr5:36919600-36931400	Weak transcription	Left Ventricle	heart
19	chr5:36919600-36938200	Weak transcription	Pancreas	Pancrea
20	chr5:36919800-36921600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr5:36919800-36923000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:36919800-36925800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:36919800-36926200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:36919800-36953000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr5:36919800-36961600	Weak transcription	K562	blood
26	chr5:36920000-36928200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:36920000-36928600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr5:36920400-36921400	Enhancers	Liver	Liver
29	chr5:36920400-36921400	Weak transcription	Brain Anterior Caudate	brain
30	chr5:36920400-36921600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:36920400-36951400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:36920600-36921600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr5:36920800-36921200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr5:36920800-36921200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr5:36920800-36921600	Enhancers	Colon Smooth Muscle	Colon
36	chr5:36921000-36921200	Enhancers	Rectal Smooth Muscle	rectum
37	chr5:36921000-36922400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:36921000-36924000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:36921000-36925800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links