Variant report

Variant	rs13412138
Chromosome Location	chr2:31466438-31466439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs583535	1.00[AMR][1000 genomes]
rs597955	1.00[AMR][1000 genomes]
rs630955	1.00[AMR][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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1009712	chr2:31424588-31468364	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1000416	chr2:31424588-31470845	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv581268	chr2:31425783-31467079	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31457600-31470800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:31457800-31467000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:31457800-31470600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:31457800-31472200	Weak transcription	Gastric	stomach
5	chr2:31457800-31485800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:31457800-31491200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:31458000-31470600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:31458000-31475600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:31458000-31479000	Weak transcription	Primary T cells from cord blood	blood
10	chr2:31458000-31479400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:31458000-31483400	Weak transcription	Ovary	ovary
12	chr2:31458200-31467000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:31458200-31469000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:31458200-31479200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:31458200-31479200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:31458200-31479200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:31458200-31489000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:31458400-31471000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:31458400-31476600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:31458400-31486000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:31458800-31483400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:31458800-31490200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:31458800-31493600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr2:31459200-31467200	Weak transcription	Fetal Brain Male	brain
25	chr2:31459400-31498600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:31459600-31473600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:31459600-31476200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:31459800-31479400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:31460000-31479400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:31461000-31471400	Weak transcription	Fetal Intestine Small	intestine
31	chr2:31462000-31471000	Weak transcription	Brain Germinal Matrix	brain
32	chr2:31462000-31495600	Weak transcription	Fetal Lung	lung
33	chr2:31462400-31491000	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:31462600-31467000	Weak transcription	Fetal Brain Female	brain
35	chr2:31462800-31467000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:31463000-31468400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:31463000-31475600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:31463000-31479400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:31463200-31467200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:31463200-31467400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:31463200-31475600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:31463200-31475800	Weak transcription	NHEK	skin
43	chr2:31463400-31469000	Weak transcription	Osteobl	bone
44	chr2:31463400-31482200	Weak transcription	HSMM	muscle
45	chr2:31463400-31491800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:31463600-31468800	Weak transcription	NHDF-Ad	bronchial
47	chr2:31463600-31470400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr2:31463600-31470400	Weak transcription	NH-A	brain
49	chr2:31463600-31470600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:31463600-31471000	Weak transcription	Brain Substantia Nigra	brain

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