Variant report

Variant	rs376064291
Chromosome Location	chr2:149005429-149005430
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:148994771..148998300-chr2:149002088..149006299,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001339	chr2:148755022-149020866	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535977	chr2:148755022-149020866	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv869146	chr2:148787051-149060763	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1004431	chr2:148859099-149054114	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148984400-149011800	Weak transcription	Gastric	stomach
2	chr2:148984800-149011800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:148985400-149011200	Weak transcription	Pancreas	Pancrea
4	chr2:148986800-149011600	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:148990200-149011400	Weak transcription	Spleen	Spleen
6	chr2:148992600-149009600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:148994800-149016600	Weak transcription	Fetal Brain Male	brain
8	chr2:148995000-149019800	Weak transcription	Aorta	Aorta
9	chr2:148995000-149030800	Weak transcription	Left Ventricle	heart
10	chr2:148995200-149011000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:148995200-149011400	Weak transcription	Placenta	Placenta
12	chr2:148995400-149010400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:148995400-149011200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:148995400-149011200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:148995400-149011400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:148995400-149013400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:148995400-149015200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:148995600-149008400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:148995800-149010800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:148996400-149007400	Weak transcription	Primary T cells from cord blood	blood
21	chr2:148996400-149008800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:148996400-149010000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr2:148996400-149011400	Weak transcription	Adipose Nuclei	Adipose
24	chr2:148996400-149030400	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:148997000-149012000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:148997400-149008600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr2:148997400-149010400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:148997400-149011000	Weak transcription	Fetal Kidney	kidney
29	chr2:148997600-149009600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:148997800-149011400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:148998600-149011000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:148998800-149009800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:148999400-149006600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:148999400-149009600	Weak transcription	Ovary	ovary
35	chr2:148999400-149016400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:149000600-149007600	Weak transcription	Primary B cells from cord blood	blood
37	chr2:149002600-149015600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:149002800-149012000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:149002800-149012000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:149002800-149016600	Weak transcription	NHLF	lung
41	chr2:149003000-149011200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:149003000-149011400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:149003200-149011200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:149003800-149011800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:149005400-149005800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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