Variant report

Variant	rs532705834
Chromosome Location	chr3:19992917-19992918
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	POLR2A	chr3:19986265-20000717	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:19992532..19994138-chr3:20013293..20015192,2	K562	blood:
2	chr3:19991110..19993492-chr3:20053410..20056377,2	K562	blood:

Variant related genes	Relation type
EFHB	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	chr3:19990000-19993400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr3:19990000-20008600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:19990000-20016200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:19990800-19993000	Weak transcription	Fetal Stomach	stomach
10	chr3:19990800-19996600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
11	chr3:19990800-20017000	Weak transcription	Fetal Kidney	kidney
12	chr3:19991000-19993000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:19991000-19993000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:19991000-19993000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:19991000-19993000	Weak transcription	Right Atrium	heart
16	chr3:19991000-19993000	Weak transcription	Thymus	Thymus
17	chr3:19991000-19993200	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:19991000-19993200	Weak transcription	HSMMtube	muscle
19	chr3:19991000-19995200	Weak transcription	Brain Germinal Matrix	brain
20	chr3:19991000-19996200	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:19991000-19996600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:19991000-20001800	Weak transcription	Brain Angular Gyrus	brain
23	chr3:19991200-19993000	Weak transcription	Brain Anterior Caudate	brain
24	chr3:19991200-19993200	Weak transcription	Primary B cells from cord blood	blood
25	chr3:19991200-20002600	Weak transcription	Fetal Heart	heart
26	chr3:19991400-19993000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr3:19991400-19993000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr3:19991400-19993200	Weak transcription	Right Ventricle	heart
29	chr3:19991400-19993800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:19991400-19995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:19991400-19995400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr3:19991400-19995400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr3:19991400-19998200	Weak transcription	Aorta	Aorta
34	chr3:19991400-19998800	Strong transcription	Fetal Thymus	thymus
35	chr3:19991400-20017000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr3:19991600-19993000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:19991600-19993000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:19991600-19993000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:19991600-19993000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:19991600-19993000	Weak transcription	Left Ventricle	heart
41	chr3:19991600-19993000	Weak transcription	Lung	lung
42	chr3:19991600-19993000	Weak transcription	Ovary	ovary
43	chr3:19991600-19993000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr3:19991600-19993200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr3:19991600-19993200	Weak transcription	A549	lung
46	chr3:19991600-19995000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:19991600-19995400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:19991600-19997200	Strong transcription	NH-A	brain
49	chr3:19991600-19998400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr3:19991600-19998400	Weak transcription	Psoas Muscle	Psoas

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