Variant report

Variant	rs550800364
Chromosome Location	chr3:50122430-50122431
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv822080	chr3:50120789-50126278	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv822081	chr3:50120963-50127117	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50104200-50123400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:50106200-50125800	Weak transcription	Stomach Mucosa	stomach
3	chr3:50108800-50126000	Weak transcription	Fetal Heart	heart
4	chr3:50110200-50126000	Weak transcription	NHLF	lung
5	chr3:50110600-50125800	Weak transcription	Small Intestine	intestine
6	chr3:50111000-50125800	Weak transcription	Colonic Mucosa	Colon
7	chr3:50111000-50126000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:50111200-50126200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:50112200-50125800	Weak transcription	K562	blood
10	chr3:50113000-50125800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:50113000-50125800	Weak transcription	A549	lung
12	chr3:50113000-50126000	Weak transcription	NH-A	brain
13	chr3:50113200-50125600	Weak transcription	HepG2	liver
14	chr3:50113200-50125800	Weak transcription	Colon Smooth Muscle	Colon
15	chr3:50113200-50125800	Weak transcription	Gastric	stomach
16	chr3:50113200-50125800	Weak transcription	Pancreas	Pancrea
17	chr3:50113200-50125800	Weak transcription	Psoas Muscle	Psoas
18	chr3:50113200-50126200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:50113400-50125600	Weak transcription	Dnd41	blood
20	chr3:50113400-50125800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:50113400-50125800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:50113400-50125800	Weak transcription	Brain Substantia Nigra	brain
23	chr3:50113400-50125800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr3:50113400-50125800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:50113400-50125800	Weak transcription	Hela-S3	cervix
26	chr3:50113400-50125800	Weak transcription	HMEC	breast
27	chr3:50113400-50125800	Weak transcription	NHEK	skin
28	chr3:50113400-50126000	Weak transcription	Fetal Kidney	kidney
29	chr3:50113400-50126000	Weak transcription	Fetal Lung	lung
30	chr3:50113400-50126000	Weak transcription	HSMMtube	muscle
31	chr3:50114600-50126000	Weak transcription	Ovary	ovary
32	chr3:50114800-50125800	Weak transcription	Brain Hippocampus Middle	brain
33	chr3:50115400-50125800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:50115400-50125800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:50115400-50125800	Weak transcription	Brain Anterior Caudate	brain
36	chr3:50115400-50125800	Weak transcription	Right Ventricle	heart
37	chr3:50115400-50125800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr3:50115400-50126000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:50115600-50125800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:50115600-50125800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:50115600-50126000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr3:50115600-50126000	Weak transcription	Fetal Stomach	stomach
43	chr3:50115600-50126000	Weak transcription	NHDF-Ad	bronchial
44	chr3:50115600-50126400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:50115800-50125800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:50115800-50125800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr3:50115800-50125800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr3:50115800-50125800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr3:50115800-50125800	Weak transcription	Left Ventricle	heart
50	chr3:50115800-50125800	Weak transcription	Lung	lung

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