Variant report

Variant	rs2513846
Chromosome Location	chr8:98956857-98956858
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	chr8:98949816..98952906-chr8:98954866..98958097,3	K562	blood:
2	chr8:98954807..98957086-chr8:98962023..98964271,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10091886	0.82[JPT][hapmap]
rs1020654	0.82[JPT][hapmap]
rs1020655	0.82[JPT][hapmap]
rs1378123	0.82[JPT][hapmap]
rs1378124	0.89[JPT][hapmap]
rs1378125	0.89[JPT][hapmap]
rs1378126	0.82[JPT][hapmap]
rs1454714	0.89[JPT][hapmap]
rs2444879	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2444902	0.82[JPT][hapmap]
rs2512026	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2512034	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2512035	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2513845	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2513847	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2513851	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4469426	0.82[JPT][hapmap]
rs4512352	0.82[JPT][hapmap]
rs5012370	0.82[JPT][hapmap]
rs6468603	0.81[JPT][hapmap]
rs897190	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription 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	72 gene(s)	inside rSNPs	diseases
3	nsv1028055	chr8:98780445-98977746	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891214	chr8:98849303-98990399	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv891215	chr8:98910287-98980663	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr8:98938200-98969200	Weak transcription	Colonic Mucosa	Colon
2	chr8:98941000-98968000	Weak transcription	Esophagus	oesophagus
3	chr8:98944600-98957800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:98945600-98970200	Weak transcription	Spleen	Spleen
5	chr8:98950400-98964600	Weak transcription	Pancreas	Pancrea
6	chr8:98952200-98962200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:98954000-98957200	Genic enhancers	Fetal Muscle Leg	muscle
8	chr8:98954200-98957800	Genic enhancers	Fetal Stomach	stomach
9	chr8:98954200-98957800	Enhancers	NHDF-Ad	bronchial
10	chr8:98954200-98958000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:98954600-98957200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr8:98954800-98957400	Enhancers	Fetal Lung	lung
13	chr8:98955200-98957000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr8:98955400-98957200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:98955400-98957800	Enhancers	Left Ventricle	heart
16	chr8:98955600-98957000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:98955600-98957200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:98955600-98957200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:98955600-98957400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:98955600-98957600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:98955600-98959000	Enhancers	Ovary	ovary
22	chr8:98955600-98962200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:98955600-98962400	Weak transcription	Fetal Kidney	kidney
24	chr8:98955800-98957000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:98955800-98957000	Enhancers	Rectal Smooth Muscle	rectum
26	chr8:98955800-98957200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:98955800-98957200	Genic enhancers	Fetal Muscle Trunk	muscle
28	chr8:98955800-98957200	Enhancers	Right Atrium	heart
29	chr8:98955800-98957200	Enhancers	Osteobl	bone
30	chr8:98956000-98957000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr8:98956000-98957000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr8:98956000-98957000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr8:98956000-98957000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:98956000-98957000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr8:98956000-98957000	Enhancers	NH-A	brain
36	chr8:98956000-98957200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr8:98956000-98957400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr8:98956200-98957000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:98956200-98957000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:98956200-98957000	Enhancers	Brain Substantia Nigra	brain
41	chr8:98956200-98957200	Enhancers	Colon Smooth Muscle	Colon
42	chr8:98956200-98957200	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr8:98956200-98957200	Enhancers	NHLF	lung
44	chr8:98956200-98957400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:98956200-98957400	Enhancers	Fetal Heart	heart
46	chr8:98956200-98957600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:98956200-98957600	Enhancers	Adipose Nuclei	Adipose
48	chr8:98956200-98957600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr8:98956200-98957600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:98956200-98957600	Enhancers	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links