Variant report

Variant	rs560437317
Chromosome Location	chr3:50116183-50116184
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	nsv834690	chr3:50101835-50267584	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv515986	chr3:50104307-50267584	Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv432418	chr3:50114496-50224196	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv822079	chr3:50116177-50126157	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50082400-50116200	Strong transcription	Fetal Thymus	thymus
2	chr3:50082600-50116200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:50084200-50116600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:50089200-50116200	Strong transcription	Duodenum Mucosa	Duodenum
5	chr3:50089200-50116400	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:50097200-50116200	Strong transcription	Brain Cingulate Gyrus	brain
7	chr3:50104200-50123400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:50105800-50116200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:50105800-50116200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:50105800-50116400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:50106000-50116200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:50106200-50125800	Weak transcription	Stomach Mucosa	stomach
13	chr3:50108800-50126000	Weak transcription	Fetal Heart	heart
14	chr3:50110200-50126000	Weak transcription	NHLF	lung
15	chr3:50110600-50125800	Weak transcription	Small Intestine	intestine
16	chr3:50111000-50125800	Weak transcription	Colonic Mucosa	Colon
17	chr3:50111000-50126000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:50111200-50119000	Weak transcription	Fetal Brain Male	brain
19	chr3:50111200-50119800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:50111200-50126200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:50112200-50125800	Weak transcription	K562	blood
22	chr3:50112800-50119600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:50113000-50119400	Weak transcription	Esophagus	oesophagus
24	chr3:50113000-50125800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:50113000-50125800	Weak transcription	A549	lung
26	chr3:50113000-50126000	Weak transcription	NH-A	brain
27	chr3:50113200-50116200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr3:50113200-50119600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr3:50113200-50119600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:50113200-50119600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr3:50113200-50119600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr3:50113200-50119600	Weak transcription	HUVEC	blood vessel
33	chr3:50113200-50120200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:50113200-50120200	Weak transcription	Spleen	Spleen
35	chr3:50113200-50125600	Weak transcription	HepG2	liver
36	chr3:50113200-50125800	Weak transcription	Colon Smooth Muscle	Colon
37	chr3:50113200-50125800	Weak transcription	Gastric	stomach
38	chr3:50113200-50125800	Weak transcription	Pancreas	Pancrea
39	chr3:50113200-50125800	Weak transcription	Psoas Muscle	Psoas
40	chr3:50113200-50126200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:50113400-50117800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr3:50113400-50118000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr3:50113400-50118800	Weak transcription	Primary B cells from cord blood	blood
44	chr3:50113400-50118800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr3:50113400-50119600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr3:50113400-50125600	Weak transcription	Dnd41	blood
47	chr3:50113400-50125800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:50113400-50125800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:50113400-50125800	Weak transcription	Brain Substantia Nigra	brain
50	chr3:50113400-50125800	Weak transcription	Rectal Mucosa Donor 31	rectum

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