Variant report

Variant	rs12329049
Chromosome Location	chr2:11411003-11411004
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	chr2:11410844..11413119-chr2:11416854..11418715,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:15)

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]
rs12329273	0.82[AFR][1000 genomes]
rs12329341	0.82[AFR][1000 genomes]
rs13388427	0.91[AFR][1000 genomes]
rs13420367	1.00[AFR][1000 genomes]
rs13431906	1.00[AFR][1000 genomes]
rs1375853	1.00[YRI][hapmap]
rs55931955	0.91[AFR][1000 genomes]
rs6705981	0.91[AFR][1000 genomes]
rs6748868	0.91[AFR][1000 genomes]
rs7422435	1.00[YRI][hapmap]
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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
2	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
3	chr2:11352600-11411200	Weak transcription	Thymus	Thymus
4	chr2:11352800-11424000	Weak transcription	HSMMtube	muscle
5	chr2:11354600-11423800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:11361000-11411200	Weak transcription	Fetal Thymus	thymus
7	chr2:11361000-11416600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:11361200-11425600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:11364400-11423800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:11372600-11423800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:11378800-11428600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:11383000-11424000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:11387800-11417400	Weak transcription	Placenta	Placenta
14	chr2:11388600-11411200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:11389800-11423800	Weak transcription	Colonic Mucosa	Colon
16	chr2:11391400-11411200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:11391400-11412600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:11391400-11423800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:11391400-11423800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:11391400-11423800	Weak transcription	Ovary	ovary
21	chr2:11391600-11411200	Weak transcription	Osteobl	bone
22	chr2:11391600-11414600	Weak transcription	HUVEC	blood vessel
23	chr2:11391600-11418000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:11391600-11424000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:11391600-11424000	Weak transcription	NHEK	skin
26	chr2:11392400-11423800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:11394600-11417600	Weak transcription	Fetal Lung	lung
28	chr2:11394800-11420400	Weak transcription	Small Intestine	intestine
29	chr2:11394800-11423800	Weak transcription	Fetal Kidney	kidney
30	chr2:11394800-11432800	Weak transcription	Right Ventricle	heart
31	chr2:11395400-11417400	Weak transcription	Brain Germinal Matrix	brain
32	chr2:11396400-11413200	Strong transcription	HepG2	liver
33	chr2:11396600-11423800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:11397600-11412600	Weak transcription	Left Ventricle	heart
35	chr2:11397600-11412600	Weak transcription	Lung	lung
36	chr2:11397600-11414800	Weak transcription	GM12878-XiMat	blood
37	chr2:11397600-11417400	Weak transcription	Adipose Nuclei	Adipose
38	chr2:11397600-11423200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:11397800-11411200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:11397800-11417600	Weak transcription	Liver	Liver
41	chr2:11397800-11417800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:11398600-11411200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:11399200-11411200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:11399400-11411400	Weak transcription	Psoas Muscle	Psoas
45	chr2:11403600-11413600	Weak transcription	K562	blood
46	chr2:11404400-11423800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:11404400-11423800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:11404600-11423800	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:11404800-11423800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:11404800-11423800	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links