Variant report

Variant	rs2076808
Chromosome Location	chr19:41265183-41265184
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41265183-41265459	K562	blood:	n/a	n/a
2	POLR2A	chr19:41265126-41265692	K562	blood:	n/a	n/a
3	POLR2A	chr19:41265159-41265256	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr19:41265130-41265636	K562	blood:	n/a	n/a
5	POLR2A	chr19:41265129-41265446	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:41265015-41265850	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr19:41264983-41265697	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr19:41265038-41265474	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr19:41265127-41265210	HUVEC	blood vessel:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41260139..41263549-chr19:41263654..41270764,10	MCF-7	breast:
2	chr19:41264656..41268852-chr19:41282370..41284831,5	K562	blood:
3	chr19:41263983..41267692-chr19:41276306..41279646,3	K562	blood:

No data

Variant related genes	Relation type
SNRPA	TF binding region
ENSG00000167578	Chromatin interaction
ENSG00000261857	Chromatin interaction
ENSG00000171570	Chromatin interaction
ENSG00000077312	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16974507	0.81[AFR][1000 genomes]
rs897810	1.00[AFR][1000 genomes]

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	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	esv1800615	chr19:41127465-41270055	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv1802033	chr19:41256131-41284240	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases
4	esv1801805	chr19:41256581-41284363	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
5	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41258000-41283000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:41258400-41265200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr19:41258800-41268400	Weak transcription	Psoas Muscle	Psoas
4	chr19:41259000-41275200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:41259200-41272800	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr19:41260200-41266800	Genic enhancers	Spleen	Spleen
7	chr19:41260200-41272000	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr19:41260400-41266600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:41260400-41271800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:41260600-41272400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:41260600-41272600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:41260600-41277200	Strong transcription	Fetal Brain Female	brain
13	chr19:41260800-41272200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr19:41260800-41272200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr19:41260800-41272400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr19:41260800-41272400	Strong transcription	Brain Anterior Caudate	brain
17	chr19:41260800-41283200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr19:41261000-41271800	Strong transcription	HSMM	muscle
19	chr19:41261000-41272200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:41261000-41272200	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr19:41261200-41272200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:41261200-41272200	Strong transcription	Fetal Lung	lung
23	chr19:41261200-41273000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:41261200-41273600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr19:41261600-41267800	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:41261600-41269000	Strong transcription	Brain Hippocampus Middle	brain
27	chr19:41261600-41272000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr19:41261600-41272000	Strong transcription	Osteobl	bone
29	chr19:41261600-41272200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr19:41261600-41272200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:41261600-41275000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:41261600-41275200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr19:41261800-41272000	Strong transcription	Ovary	ovary
34	chr19:41261800-41272200	Strong transcription	Primary hematopoietic stem cells	blood
35	chr19:41261800-41272200	Strong transcription	NHLF	lung
36	chr19:41261800-41272400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:41261800-41272400	Strong transcription	Fetal Intestine Large	intestine
38	chr19:41261800-41272400	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:41261800-41272600	Strong transcription	Right Ventricle	heart
40	chr19:41261800-41276800	Strong transcription	Fetal Intestine Small	intestine
41	chr19:41261800-41278200	Strong transcription	Fetal Stomach	stomach
42	chr19:41261800-41282800	Weak transcription	Right Atrium	heart
43	chr19:41262000-41270000	Weak transcription	Fetal Heart	heart
44	chr19:41262000-41272200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:41262000-41272200	Strong transcription	K562	blood
46	chr19:41262000-41273400	Strong transcription	Brain Germinal Matrix	brain
47	chr19:41262000-41276200	Strong transcription	Thymus	Thymus
48	chr19:41262200-41273800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr19:41262400-41270400	Strong transcription	Fetal Thymus	thymus
50	chr19:41262400-41272400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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