Variant report

Variant	rs7995246
Chromosome Location	chr13:51833247-51833248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:51828873..51831199-chr13:51831782..51833897,3	K562	blood:
2	chr13:51831560..51833601-chr13:52377914..52379439,2	K562	blood:
3	chr13:51825741..51827924-chr13:51832786..51834447,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231856	Chromatin interaction
ENSG00000102796	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1022854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17075482	1.00[CHB][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4941695	0.83[AFR][1000 genomes]
rs4942982	1.00[CHB][hapmap]
rs6561627	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs9535627	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9568572	1.00[CHB][hapmap]
rs9591400	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs9596491	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51816200-51836600	Weak transcription	Adipose Nuclei	Adipose
2	chr13:51816800-51836000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:51821400-51833800	Weak transcription	Gastric	stomach
4	chr13:51821600-51836200	Weak transcription	Fetal Muscle Leg	muscle
5	chr13:51821600-51839000	Weak transcription	Esophagus	oesophagus
6	chr13:51821600-51845000	Weak transcription	Fetal Brain Male	brain
7	chr13:51824200-51844000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:51824400-51836600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr13:51825400-51840600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr13:51826000-51833600	Weak transcription	Pancreas	Pancrea
11	chr13:51826400-51833800	Weak transcription	Lung	lung
12	chr13:51826400-51854600	Weak transcription	Aorta	Aorta
13	chr13:51828400-51834600	Weak transcription	Colon Smooth Muscle	Colon
14	chr13:51829400-51835800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr13:51829800-51835800	Strong transcription	Fetal Stomach	stomach
16	chr13:51829800-51836000	Strong transcription	Fetal Brain Female	brain
17	chr13:51830000-51833600	Weak transcription	Thymus	Thymus
18	chr13:51830400-51833600	Weak transcription	Right Atrium	heart
19	chr13:51830400-51835800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr13:51830600-51834800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr13:51830800-51834600	Genic enhancers	Brain Inferior Temporal Lobe	brain
22	chr13:51830800-51836200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr13:51831000-51834000	Genic enhancers	Brain Substantia Nigra	brain
24	chr13:51831200-51833800	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr13:51831400-51834200	Weak transcription	Brain Germinal Matrix	brain
26	chr13:51831600-51834400	Enhancers	Fetal Heart	heart
27	chr13:51831800-51836400	Genic enhancers	Brain Hippocampus Middle	brain
28	chr13:51832000-51835000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
29	chr13:51832000-51837800	Genic enhancers	Brain Cingulate Gyrus	brain
30	chr13:51832200-51835600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr13:51832200-51835800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:51832600-51833400	Enhancers	Brain Anterior Caudate	brain
33	chr13:51832600-51833600	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr13:51832600-51833800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr13:51832600-51833800	Enhancers	Brain Angular Gyrus	brain
36	chr13:51832600-51834000	Genic enhancers	H1 Cell Line	embryonic stem cell
37	chr13:51832600-51836200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr13:51832600-51837600	Enhancers	Left Ventricle	heart
39	chr13:51832800-51833600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr13:51832800-51833600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr13:51832800-51834000	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr13:51832800-51834200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr13:51832800-51834600	Genic enhancers	Spleen	Spleen
44	chr13:51832800-51843200	Weak transcription	Fetal Lung	lung
45	chr13:51833000-51833400	Genic enhancers	H9 Cell Line	embryonic stem cell
46	chr13:51833000-51833400	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr13:51833000-51833400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr13:51833000-51833600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:51833000-51833600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
50	chr13:51833000-51833800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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