Variant report

Variant	rs11124280
Chromosome Location	chr2:32506712-32506713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1033750	1.00[CEU][hapmap]
rs13423837	1.00[CEU][hapmap]
rs13425665	1.00[CEU][hapmap]
rs7580510	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking 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 miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv1002120	chr2:32470452-32539443	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1004279	chr2:32470452-32543369	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32503600-32518600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:32503800-32507000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:32503800-32513200	Weak transcription	Small Intestine	intestine
4	chr2:32503800-32513600	Weak transcription	Gastric	stomach
5	chr2:32503800-32520400	Weak transcription	Spleen	Spleen
6	chr2:32504000-32507000	Weak transcription	Right Ventricle	heart
7	chr2:32504000-32507000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:32504000-32507400	Weak transcription	Brain Substantia Nigra	brain
9	chr2:32504000-32509600	Weak transcription	NHDF-Ad	bronchial
10	chr2:32504000-32509800	Weak transcription	Esophagus	oesophagus
11	chr2:32504000-32513200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:32504000-32513600	Weak transcription	Psoas Muscle	Psoas
13	chr2:32504000-32515400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:32504000-32516800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:32504000-32516800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:32504000-32516800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:32504000-32520200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:32504000-32520600	Weak transcription	Aorta	Aorta
19	chr2:32504000-32531200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:32504000-32537600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:32504000-32540200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:32504000-32549400	Weak transcription	HSMMtube	muscle
23	chr2:32504200-32506800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:32504200-32506800	Weak transcription	Ovary	ovary
25	chr2:32504200-32507000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr2:32504200-32507200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:32504200-32507200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:32504200-32507200	Weak transcription	Pancreas	Pancrea
29	chr2:32504200-32508200	Weak transcription	NH-A	brain
30	chr2:32504200-32508600	Weak transcription	Stomach Mucosa	stomach
31	chr2:32504200-32508800	Weak transcription	NHEK	skin
32	chr2:32504200-32509000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:32504200-32509000	Weak transcription	HMEC	breast
34	chr2:32504200-32509000	Weak transcription	NHLF	lung
35	chr2:32504200-32509400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:32504200-32509400	Weak transcription	Fetal Brain Female	brain
37	chr2:32504200-32509400	Weak transcription	K562	blood
38	chr2:32504200-32513200	Weak transcription	Colonic Mucosa	Colon
39	chr2:32504200-32513200	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:32504200-32514000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:32504200-32514000	Weak transcription	Osteobl	bone
42	chr2:32504200-32514600	Weak transcription	Brain Angular Gyrus	brain
43	chr2:32504200-32516800	Weak transcription	HSMM	muscle
44	chr2:32504200-32520000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:32504200-32520200	Weak transcription	Fetal Kidney	kidney
46	chr2:32504200-32520400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:32504200-32524400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:32504400-32506800	Weak transcription	Primary T cells from cord blood	blood
49	chr2:32504400-32506800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:32504400-32506800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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