Variant report

Variant	rs6743540
Chromosome Location	chr2:10126751-10126752
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10124756..10127578-chr2:10133279..10134788,2	K562	blood:
2	chr2:10124646..10126167-chr2:10126263..10128790,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12614762	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13031952	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16867274	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2099204	0.87[ASN][1000 genomes]
rs3791759	0.86[ASN][1000 genomes]
rs59715119	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6705493	0.86[ASN][1000 genomes]
rs6720380	0.87[ASN][1000 genomes]
rs6720387	0.87[ASN][1000 genomes]
rs6733635	0.87[ASN][1000 genomes]
rs744033	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised 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	32 gene(s)	inside rSNPs	diseases
7	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10101400-10144800	Weak transcription	Brain Germinal Matrix	brain
2	chr2:10101600-10136400	Weak transcription	Brain Angular Gyrus	brain
3	chr2:10102200-10136400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:10104600-10130200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:10113400-10130800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:10113400-10136800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:10113400-10141200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:10115000-10148000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:10120400-10131800	Weak transcription	Dnd41	blood
10	chr2:10121200-10128000	Weak transcription	Fetal Brain Male	brain
11	chr2:10121600-10127000	Weak transcription	HepG2	liver
12	chr2:10124000-10136400	Weak transcription	Hela-S3	cervix
13	chr2:10124400-10139200	Weak transcription	Gastric	stomach
14	chr2:10124600-10128800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:10124800-10130600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:10124800-10131800	Weak transcription	Fetal Kidney	kidney
17	chr2:10124800-10143200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:10124800-10149400	Weak transcription	Brain Anterior Caudate	brain
19	chr2:10125000-10127400	Weak transcription	Ovary	ovary
20	chr2:10125000-10128000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:10125000-10130800	Weak transcription	Left Ventricle	heart
22	chr2:10125000-10132600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:10125000-10134200	Weak transcription	Right Ventricle	heart
24	chr2:10125000-10140600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:10125000-10147600	Weak transcription	K562	blood
26	chr2:10125000-10149400	Weak transcription	Psoas Muscle	Psoas
27	chr2:10125200-10127000	Weak transcription	Lung	lung
28	chr2:10125200-10130800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:10125200-10134000	Weak transcription	Stomach Mucosa	stomach
30	chr2:10125200-10139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:10125200-10139200	Weak transcription	Pancreas	Pancrea
32	chr2:10125200-10150000	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:10125400-10131400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:10125600-10127400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:10125600-10129000	Weak transcription	NHEK	skin
36	chr2:10125600-10131800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:10125800-10130800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:10125800-10130800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:10125800-10130800	Weak transcription	Fetal Intestine Large	intestine
40	chr2:10125800-10132200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:10126000-10130600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:10126000-10130800	Weak transcription	HSMM	muscle
43	chr2:10126000-10130800	Weak transcription	Osteobl	bone
44	chr2:10126000-10132400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:10126000-10144000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr2:10126200-10128400	Genic enhancers	Placenta	Placenta
47	chr2:10126200-10128800	Strong transcription	Esophagus	oesophagus
48	chr2:10126200-10130800	Weak transcription	NHDF-Ad	bronchial
49	chr2:10126200-10132000	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:10126200-10133400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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