Variant report

Variant	rs749455
Chromosome Location	chr2:33501926-33501927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33169785..33172664-chr2:33500827..33503324,2	K562	blood:

Variant related genes	Relation type
ENSG00000206951	Chromatin interaction
ENSG00000049323	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11124311	0.90[AMR][1000 genomes]
rs11124312	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12624081	0.82[ASN][1000 genomes]
rs13399607	0.82[ASN][1000 genomes]
rs13432307	0.82[ASN][1000 genomes]
rs3754829	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3769542	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41464348	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62148927	0.90[ASN][1000 genomes]
rs6735659	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7575377	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs817535	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs877672	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935996	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

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	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
2	chr2:33487000-33509800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:33487800-33502400	Weak transcription	Brain Anterior Caudate	brain
4	chr2:33490600-33515600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:33491800-33502000	Weak transcription	Brain Angular Gyrus	brain
6	chr2:33491800-33504400	Weak transcription	Colonic Mucosa	Colon
7	chr2:33492000-33515800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:33492200-33516600	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:33492200-33516600	Weak transcription	Brain Substantia Nigra	brain
10	chr2:33492400-33502000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:33492400-33502000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:33492400-33502000	Weak transcription	Spleen	Spleen
13	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
14	chr2:33492600-33502000	Weak transcription	Ovary	ovary
15	chr2:33492600-33508400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:33493400-33502000	Weak transcription	Fetal Brain Male	brain
17	chr2:33493600-33515200	Weak transcription	Fetal Lung	lung
18	chr2:33493800-33503400	Weak transcription	Fetal Brain Female	brain
19	chr2:33493800-33515400	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:33494000-33502000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:33494200-33506200	Weak transcription	Fetal Heart	heart
22	chr2:33494200-33516000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:33494200-33516200	Weak transcription	Fetal Kidney	kidney
24	chr2:33494600-33515200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:33497800-33503400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:33499200-33508000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:33499400-33502400	Strong transcription	Liver	Liver
28	chr2:33499600-33502200	Strong transcription	Aorta	Aorta
29	chr2:33499800-33502400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:33500000-33502200	Strong transcription	Fetal Stomach	stomach
31	chr2:33500000-33502400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:33500200-33504800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:33500400-33502400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:33500400-33502600	Genic enhancers	Muscle Satellite Cultured Cells	--
35	chr2:33500800-33502000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:33500800-33502400	Enhancers	Esophagus	oesophagus
37	chr2:33500800-33502400	Genic enhancers	Osteobl	bone
38	chr2:33500800-33502600	Genic enhancers	Fetal Muscle Leg	muscle
39	chr2:33500800-33503800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
40	chr2:33501000-33502400	Strong transcription	Placenta	Placenta
41	chr2:33501000-33502600	Strong transcription	Right Ventricle	heart
42	chr2:33501000-33503200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:33501000-33503200	Weak transcription	Gastric	stomach
44	chr2:33501000-33503200	Weak transcription	HMEC	breast
45	chr2:33501200-33502200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:33501200-33502600	Genic enhancers	Stomach Smooth Muscle	stomach
47	chr2:33501200-33505400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:33501200-33505600	Weak transcription	NHLF	lung
49	chr2:33501200-33511000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:33501200-33516400	Weak transcription	Stomach Mucosa	stomach

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