Variant report

Variant	rs13392183
Chromosome Location	chr2:234341300-234341301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234329612..234332276-chr2:234340900..234342662,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10181039	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193542	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11888993	0.95[EUR][1000 genomes]
rs11892545	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13391864	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs13393578	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs13400563	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13403169	0.85[EUR][1000 genomes]
rs13406462	0.81[EUR][1000 genomes]
rs13406655	0.81[EUR][1000 genomes]
rs13414407	0.90[EUR][1000 genomes]
rs13419277	0.90[EUR][1000 genomes]
rs13425849	0.84[EUR][1000 genomes]
rs2305541	0.86[EUR][1000 genomes]
rs28444082	0.90[EUR][1000 genomes]
rs28506837	0.90[EUR][1000 genomes]
rs28588417	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2924810	0.84[ASN][1000 genomes]
rs2971865	0.84[ASN][1000 genomes]
rs2971866	0.84[ASN][1000 genomes]
rs2971873	0.84[ASN][1000 genomes]
rs3762591	0.90[EUR][1000 genomes]
rs58685260	0.84[ASN][1000 genomes]
rs59458664	0.86[EUR][1000 genomes]
rs6713866	0.87[EUR][1000 genomes]
rs73115402	1.00[ASN][1000 genomes]
rs73117507	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs73117519	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73117551	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73117559	0.81[AFR][1000 genomes]
rs7572257	0.84[EUR][1000 genomes]
rs838557	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234328800-234343000	Weak transcription	Liver	Liver
3	chr2:234329000-234343600	Weak transcription	Fetal Brain Female	brain
4	chr2:234329000-234351600	Weak transcription	Fetal Brain Male	brain
5	chr2:234329200-234343800	Weak transcription	Brain Germinal Matrix	brain
6	chr2:234329200-234344600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:234329400-234343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:234329400-234343400	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:234329400-234344600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:234329400-234346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:234330800-234343200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:234331000-234344000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:234331200-234343400	Weak transcription	Thymus	Thymus
14	chr2:234331200-234344000	Weak transcription	Dnd41	blood
15	chr2:234331200-234344600	Weak transcription	Esophagus	oesophagus
16	chr2:234331600-234344400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:234333200-234343200	Weak transcription	HepG2	liver
18	chr2:234333200-234344000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:234333400-234343000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:234333400-234343000	Weak transcription	Colonic Mucosa	Colon
21	chr2:234333400-234343000	Weak transcription	Spleen	Spleen
22	chr2:234333400-234344600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:234333400-234345600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:234333600-234343000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:234333600-234343200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:234333600-234343400	Weak transcription	Lung	lung
27	chr2:234333800-234343800	Weak transcription	Fetal Intestine Large	intestine
28	chr2:234334000-234343400	Weak transcription	Fetal Intestine Small	intestine
29	chr2:234335200-234357600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:234335600-234343200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:234335600-234343600	Strong transcription	Primary B cells from cord blood	blood
32	chr2:234335600-234344000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:234335600-234344000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:234335600-234344800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:234335800-234344200	Weak transcription	Small Intestine	intestine
36	chr2:234336000-234343400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:234336000-234343400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:234336000-234343400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:234336000-234343400	Weak transcription	Aorta	Aorta
40	chr2:234336800-234343200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr2:234336800-234343400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:234337200-234343000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:234337200-234343200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:234337400-234343000	Weak transcription	Brain Substantia Nigra	brain
45	chr2:234337400-234343200	Weak transcription	Fetal Stomach	stomach
46	chr2:234337800-234343000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:234337800-234343200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:234338000-234358000	Weak transcription	NH-A	brain
49	chr2:234338400-234343000	Weak transcription	Fetal Thymus	thymus
50	chr2:234338400-234343000	Weak transcription	Gastric	stomach

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