Variant report

Variant	rs13028688
Chromosome Location	chr2:234334512-234334513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234333282..234336244-chr2:234336565..234338970,2	K562	blood:
2	chr2:234333615..234335569-chr2:234339010..234340778,2	K562	blood:
3	chr2:234329179..234330776-chr2:234332983..234335044,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10175828	0.81[ASN][1000 genomes]
rs13016839	0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2276566	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34013402	0.81[EUR][1000 genomes]
rs60064064	0.90[AMR][1000 genomes]
rs71421697	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71421698	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234323200-234336600	Weak transcription	Brain Substantia Nigra	brain
3	chr2:234323800-234334600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:234324400-234335000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:234324400-234338400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:234328200-234335000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:234328800-234337000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:234328800-234343000	Weak transcription	Liver	Liver
9	chr2:234329000-234334800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:234329000-234339200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr2:234329000-234343600	Weak transcription	Fetal Brain Female	brain
12	chr2:234329000-234351600	Weak transcription	Fetal Brain Male	brain
13	chr2:234329200-234335000	Weak transcription	Aorta	Aorta
14	chr2:234329200-234335000	Weak transcription	Osteobl	bone
15	chr2:234329200-234343800	Weak transcription	Brain Germinal Matrix	brain
16	chr2:234329200-234344600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:234329400-234343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:234329400-234343400	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:234329400-234344600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:234329400-234346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:234329600-234335000	Weak transcription	HUVEC	blood vessel
22	chr2:234330800-234334600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:234330800-234335400	Weak transcription	Small Intestine	intestine
24	chr2:234330800-234336800	Weak transcription	Ovary	ovary
25	chr2:234330800-234337800	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr2:234330800-234343200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:234331000-234338000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:234331000-234344000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:234331200-234335000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr2:234331200-234335000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:234331200-234335000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:234331200-234338200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:234331200-234340400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:234331200-234343400	Weak transcription	Thymus	Thymus
35	chr2:234331200-234344000	Weak transcription	Dnd41	blood
36	chr2:234331200-234344600	Weak transcription	Esophagus	oesophagus
37	chr2:234331400-234336000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr2:234331600-234338000	Weak transcription	Fetal Thymus	thymus
39	chr2:234331600-234338200	Weak transcription	Adipose Nuclei	Adipose
40	chr2:234331600-234344400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:234332200-234338000	Weak transcription	Pancreas	Pancrea
42	chr2:234332600-234339800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr2:234332800-234335000	Active TSS	Psoas Muscle	Psoas
44	chr2:234332800-234335800	ZNF genes & repeats	GM12878-XiMat	blood
45	chr2:234333000-234335400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr2:234333200-234343200	Weak transcription	HepG2	liver
47	chr2:234333200-234344000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:234333400-234334800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr2:234333400-234334800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:234333400-234334800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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