Variant report

Variant	rs13420367
Chromosome Location	chr2:11417448-11417449
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11411018..11413119-chr2:11416854..11418915,2	K562	blood:
2	chr2:11410844..11413119-chr2:11416854..11418715,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10183373	0.91[AFR][1000 genomes]
rs10201229	0.91[AFR][1000 genomes]
rs10495580	1.00[AFR][1000 genomes]
rs10495581	0.91[AFR][1000 genomes]
rs12329049	1.00[AFR][1000 genomes]
rs12329273	0.82[AFR][1000 genomes]
rs12329341	0.82[AFR][1000 genomes]
rs13388427	0.91[AFR][1000 genomes]
rs13431906	1.00[AFR][1000 genomes]
rs55931955	0.91[AFR][1000 genomes]
rs6705981	0.91[AFR][1000 genomes]
rs6748868	0.91[AFR][1000 genomes]
rs7583049	0.91[AFR][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	esv3395022	chr2:11316915-11426380	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv1827245	chr2:11385834-11442583	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
2	chr2:11352800-11424000	Weak transcription	HSMMtube	muscle
3	chr2:11354600-11423800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:11361200-11425600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:11364400-11423800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:11372600-11423800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:11378800-11428600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:11383000-11424000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:11389800-11423800	Weak transcription	Colonic Mucosa	Colon
10	chr2:11391400-11423800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:11391400-11423800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:11391400-11423800	Weak transcription	Ovary	ovary
13	chr2:11391600-11418000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:11391600-11424000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:11391600-11424000	Weak transcription	NHEK	skin
16	chr2:11392400-11423800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:11394600-11417600	Weak transcription	Fetal Lung	lung
18	chr2:11394800-11420400	Weak transcription	Small Intestine	intestine
19	chr2:11394800-11423800	Weak transcription	Fetal Kidney	kidney
20	chr2:11394800-11432800	Weak transcription	Right Ventricle	heart
21	chr2:11396600-11423800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:11397600-11423200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:11397800-11417600	Weak transcription	Liver	Liver
24	chr2:11397800-11417800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:11404400-11423800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:11404400-11423800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:11404600-11423800	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:11404800-11423800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:11404800-11423800	Weak transcription	Fetal Heart	heart
30	chr2:11406200-11423800	Weak transcription	Fetal Brain Female	brain
31	chr2:11408600-11418000	Weak transcription	Hela-S3	cervix
32	chr2:11409000-11424000	Weak transcription	Fetal Brain Male	brain
33	chr2:11409400-11423800	Weak transcription	NH-A	brain
34	chr2:11409800-11423800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:11409800-11424200	Weak transcription	HMEC	breast
36	chr2:11410200-11423000	Weak transcription	Fetal Intestine Small	intestine
37	chr2:11410400-11433000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:11410800-11432800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:11411200-11432800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:11411400-11417800	Weak transcription	HSMM	muscle
41	chr2:11411400-11423800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:11411400-11426400	Weak transcription	Gastric	stomach
43	chr2:11411600-11417600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr2:11411600-11423000	Weak transcription	Fetal Stomach	stomach
45	chr2:11411600-11423600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:11411600-11423800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:11411800-11418200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:11411800-11418200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:11411800-11418200	Weak transcription	Osteobl	bone
50	chr2:11411800-11420800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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