Variant report

Variant	rs1185800
Chromosome Location	chr13:39979645-39979646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10492739	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs1175912	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12428389	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs12429365	0.91[CEU][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs1535776	0.92[JPT][hapmap]
rs17803327	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs516214	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs561008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59279722	0.88[ASN][1000 genomes]
rs629011	0.92[JPT][hapmap]
rs629422	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73173498	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73173499	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7988347	0.81[CEU][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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv900008	chr13:39962791-40020267	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 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	chr13:39971200-39980200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:39972800-39988600	Weak transcription	Fetal Muscle Leg	muscle
3	chr13:39975800-39981000	Weak transcription	Right Ventricle	heart
4	chr13:39975800-39988400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr13:39975800-39988600	Weak transcription	Right Atrium	heart
6	chr13:39976000-39979800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr13:39976000-39981000	Weak transcription	Brain Substantia Nigra	brain
8	chr13:39976200-39979800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:39976200-39984000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr13:39976600-39990600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:39977000-39980200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:39977000-39987800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:39977200-39981000	Weak transcription	Left Ventricle	heart
14	chr13:39977200-39983800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:39977400-39983600	Weak transcription	Brain Hippocampus Middle	brain
16	chr13:39977600-39982600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr13:39977800-39984400	Weak transcription	Psoas Muscle	Psoas
18	chr13:39979000-39980000	Enhancers	Fetal Lung	lung
19	chr13:39979200-39979800	Enhancers	Fetal Brain Female	brain
20	chr13:39979200-39980000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr13:39979200-39980000	Enhancers	NHDF-Ad	bronchial
22	chr13:39979200-39980200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr13:39979200-39981800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr13:39979400-39979800	Weak transcription	Ovary	ovary
25	chr13:39979400-39980200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:39979400-39980200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr13:39979400-39980200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:39979400-39980200	Enhancers	Brain Angular Gyrus	brain
29	chr13:39979400-39980200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr13:39979400-39980400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr13:39979400-39980400	Enhancers	Fetal Heart	heart
32	chr13:39979400-39981600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr13:39979400-39983600	Weak transcription	Fetal Brain Male	brain
34	chr13:39979600-39980000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr13:39979600-39980000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr13:39979600-39980000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:39979600-39980000	Enhancers	NHLF	lung
38	chr13:39979600-39980200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr13:39979600-39980200	Enhancers	Fetal Stomach	stomach
40	chr13:39979600-39980400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr13:39979600-39980400	Enhancers	Brain Cingulate Gyrus	brain
42	chr13:39979600-39981600	Enhancers	HUES48 Cell Line	embryonic stem cell

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