Variant report

Variant	rs149894693
Chromosome Location	chr2:40429643-40429644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv873910	chr2:40391907-40466268	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv2763455	chr2:40416373-40433420	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1001866	chr2:40416373-40433420	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv581503	chr2:40417012-40430611	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv581504	chr2:40418386-40430611	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv526425	chr2:40418386-40447587	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv526074	chr2:40423454-40451724	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv1008190	chr2:40429442-40506772	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40405400-40430000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:40417200-40430400	Weak transcription	Aorta	Aorta
3	chr2:40418200-40447200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:40418600-40445800	Weak transcription	Dnd41	blood
5	chr2:40419200-40436600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:40420600-40430000	Weak transcription	NHLF	lung
7	chr2:40422000-40435200	Weak transcription	Fetal Kidney	kidney
8	chr2:40422200-40430000	Weak transcription	Left Ventricle	heart
9	chr2:40422600-40436400	Weak transcription	Right Ventricle	heart
10	chr2:40424600-40430000	Weak transcription	Fetal Brain Male	brain
11	chr2:40424600-40430400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:40424800-40429800	Weak transcription	Fetal Brain Female	brain
13	chr2:40425200-40430000	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:40425400-40433400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr2:40426400-40430800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:40426600-40430000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:40426800-40430800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:40427000-40431600	Enhancers	Fetal Heart	heart
19	chr2:40427800-40429800	Weak transcription	HSMMtube	muscle
20	chr2:40427800-40429800	Weak transcription	Osteobl	bone
21	chr2:40428000-40429800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:40428000-40430000	Weak transcription	Ovary	ovary
23	chr2:40428600-40429800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:40428600-40431400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:40428800-40430600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:40428800-40431000	Enhancers	Colon Smooth Muscle	Colon
27	chr2:40429000-40431200	Enhancers	Fetal Stomach	stomach
28	chr2:40429200-40429800	Weak transcription	HSMM	muscle
29	chr2:40429200-40430000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:40429200-40430800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:40429200-40432200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:40429400-40429800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:40429400-40430400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:40429600-40431200	Enhancers	NHDF-Ad	bronchial

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