Variant report

Variant	rs191494501
Chromosome Location	chr3:50028553-50028554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50027643..50030377-chr3:50031655..50033615,2	K562	blood:
2	chr3:49943520..49945282-chr3:50028077..50030089,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1012903	chr3:49978765-50071878	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv460527	chr3:50028385-50153356	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv590249	chr3:50028385-50153356	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49978800-50041000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:49992200-50037000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr3:49995400-50033200	Weak transcription	Fetal Brain Male	brain
4	chr3:49998000-50078200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr3:49998400-50029600	Weak transcription	Fetal Heart	heart
6	chr3:49998400-50078600	Weak transcription	K562	blood
7	chr3:50002200-50057000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr3:50003000-50033400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:50004400-50044200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:50005000-50031400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:50005000-50036800	Weak transcription	Small Intestine	intestine
12	chr3:50005200-50033400	Weak transcription	Esophagus	oesophagus
13	chr3:50005200-50046400	Weak transcription	Psoas Muscle	Psoas
14	chr3:50005200-50050600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:50005400-50036800	Weak transcription	Brain Anterior Caudate	brain
16	chr3:50006000-50064000	Weak transcription	Stomach Mucosa	stomach
17	chr3:50006200-50040800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:50008600-50050400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:50010800-50087000	Weak transcription	NHLF	lung
20	chr3:50011000-50031800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:50011000-50036600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr3:50011000-50036800	Weak transcription	Brain Angular Gyrus	brain
23	chr3:50011000-50037000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:50011000-50041000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:50011000-50046400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:50011000-50046400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr3:50011000-50048400	Weak transcription	A549	lung
28	chr3:50011000-50051000	Weak transcription	Pancreas	Pancrea
29	chr3:50011000-50078400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr3:50011000-50091600	Weak transcription	Colonic Mucosa	Colon
31	chr3:50011400-50035800	Weak transcription	Lung	lung
32	chr3:50012400-50049000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr3:50014800-50035800	Weak transcription	NHDF-Ad	bronchial
34	chr3:50015200-50031800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr3:50015200-50092000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:50015400-50046400	Weak transcription	Fetal Kidney	kidney
37	chr3:50015800-50033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr3:50015800-50041000	Weak transcription	HSMMtube	muscle
39	chr3:50016000-50040800	Weak transcription	Brain Substantia Nigra	brain
40	chr3:50016600-50036800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr3:50016800-50037200	Weak transcription	Hela-S3	cervix
42	chr3:50017800-50035800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr3:50018800-50029400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr3:50018800-50043600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:50019000-50028800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr3:50021000-50029800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr3:50021000-50031800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr3:50021600-50029600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:50021800-50028600	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr3:50022200-50029200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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