Variant report

Variant	rs148533434
Chromosome Location	chr2:149094757-149094758
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	nsv1009608	chr2:148897348-149133718	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv523090	chr2:149037012-149110873	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1012123	chr2:149078500-149151358	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv583289	chr2:149091754-149170115	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv875277	chr2:149094415-149178974	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv875278	chr2:149094415-149201775	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149012800-149096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:149059400-149100400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:149061200-149095800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:149067200-149095800	Weak transcription	HSMM	muscle
5	chr2:149069200-149096400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:149069400-149096000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:149069400-149100200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:149071000-149105000	Weak transcription	Thymus	Thymus
9	chr2:149071400-149100400	Weak transcription	Ovary	ovary
10	chr2:149071800-149095800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:149071800-149100400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:149085400-149100400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:149086400-149099600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:149086400-149099800	Weak transcription	GM12878-XiMat	blood
15	chr2:149086800-149098200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:149086800-149100400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:149088400-149100400	Weak transcription	Fetal Kidney	kidney
18	chr2:149088800-149096200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:149089200-149119400	Weak transcription	Fetal Intestine Small	intestine
20	chr2:149089600-149100400	Weak transcription	Fetal Intestine Large	intestine
21	chr2:149089600-149105400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:149089800-149096000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:149090000-149104200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr2:149090400-149100400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:149090400-149100400	Weak transcription	Brain Anterior Caudate	brain
26	chr2:149090600-149096200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:149090600-149100200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:149091000-149100000	Weak transcription	Pancreas	Pancrea
29	chr2:149092400-149095800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:149092400-149100400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:149092400-149100400	Weak transcription	Right Ventricle	heart
32	chr2:149092600-149095600	Weak transcription	Brain Germinal Matrix	brain
33	chr2:149092600-149100400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:149092600-149100400	Weak transcription	Adipose Nuclei	Adipose
35	chr2:149092600-149100400	Weak transcription	Brain Angular Gyrus	brain
36	chr2:149092600-149100400	Weak transcription	Fetal Brain Female	brain
37	chr2:149092600-149100400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:149092600-149100400	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:149092600-149100400	Weak transcription	Small Intestine	intestine
40	chr2:149092800-149100400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:149092800-149101200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:149093000-149100400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:149093000-149100400	Weak transcription	Psoas Muscle	Psoas
44	chr2:149093000-149101200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:149093000-149103400	Weak transcription	Aorta	Aorta
46	chr2:149093200-149102400	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:149093200-149104000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr2:149093400-149095800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:149093600-149094800	Strong transcription	Primary T cells from cord blood	blood
50	chr2:149093600-149095800	Weak transcription	HUVEC	blood vessel

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