Variant report

Variant	rs148447810
Chromosome Location	chr3:19992477-19992478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr3:19992351-19992520	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr3:19986265-20000717	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:19991110..19993492-chr3:20053410..20056377,2	K562	blood:

Variant related genes	Relation type
EFHB	TF binding region
RAB5A	TF binding region
ENSG00000183977	Chromatin interaction
ENSG00000229468	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv433358	chr3:19547184-19996508	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv1828161	chr3:19547184-20062060	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv1825914	chr3:19549859-20137270	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1826570	chr3:19579860-20077414	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv1833139	chr3:19579860-20121349	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	esv1826254	chr3:19592688-20042834	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	esv1826030	chr3:19972766-20170581	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	esv1825988	chr3:19976375-20102773	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	esv1826830	chr3:19982972-20632072	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv963301	chr3:19992240-19993486	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19989800-19993000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:19989800-19993000	Weak transcription	Esophagus	oesophagus
3	chr3:19989800-19993000	Weak transcription	Spleen	Spleen
4	chr3:19989800-19995000	Weak transcription	Gastric	stomach
5	chr3:19989800-20018800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:19990000-19992600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:19990000-19993400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr3:19990000-20008600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:19990000-20016200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr3:19990800-19993000	Weak transcription	Fetal Stomach	stomach
11	chr3:19990800-19996600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
12	chr3:19990800-20017000	Weak transcription	Fetal Kidney	kidney
13	chr3:19991000-19992600	Weak transcription	HSMM	muscle
14	chr3:19991000-19993000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:19991000-19993000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr3:19991000-19993000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:19991000-19993000	Weak transcription	Right Atrium	heart
18	chr3:19991000-19993000	Weak transcription	Thymus	Thymus
19	chr3:19991000-19993200	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:19991000-19993200	Weak transcription	HSMMtube	muscle
21	chr3:19991000-19995200	Weak transcription	Brain Germinal Matrix	brain
22	chr3:19991000-19996200	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:19991000-19996600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:19991000-20001800	Weak transcription	Brain Angular Gyrus	brain
25	chr3:19991200-19992600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:19991200-19992800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:19991200-19993000	Weak transcription	Brain Anterior Caudate	brain
28	chr3:19991200-19993200	Weak transcription	Primary B cells from cord blood	blood
29	chr3:19991200-20002600	Weak transcription	Fetal Heart	heart
30	chr3:19991400-19992600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:19991400-19992800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr3:19991400-19992800	Weak transcription	Fetal Brain Male	brain
33	chr3:19991400-19993000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr3:19991400-19993000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr3:19991400-19993200	Weak transcription	Right Ventricle	heart
36	chr3:19991400-19993800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:19991400-19995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:19991400-19995400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr3:19991400-19995400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr3:19991400-19998200	Weak transcription	Aorta	Aorta
41	chr3:19991400-19998800	Strong transcription	Fetal Thymus	thymus
42	chr3:19991400-20017000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr3:19991600-19993000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:19991600-19993000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:19991600-19993000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:19991600-19993000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr3:19991600-19993000	Weak transcription	Left Ventricle	heart
48	chr3:19991600-19993000	Weak transcription	Lung	lung
49	chr3:19991600-19993000	Weak transcription	Ovary	ovary
50	chr3:19991600-19993000	Weak transcription	Rectal Mucosa Donor 31	rectum

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