Variant report

Variant	rs2283626
Chromosome Location	chr19:19304965-19304966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19304890-19305027	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr19:19304965-19305044	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr19:19304965-19304979	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19303809..19306527-chr19:19495529..19497596,2	K562	blood:
2	chr19:19300955..19305521-chr19:19311679..19315747,10	MCF-7	breast:
3	chr19:19302763..19305800-chr19:19307599..19310833,3	MCF-7	breast:
4	chr19:19304004..19306841-chr19:19429725..19433437,3	MCF-7	breast:
5	chr19:19294693..19300778-chr19:19301483..19306941,9	K562	blood:
6	chr19:19300744..19305499-chr19:19311426..19319217,10	K562	blood:
7	chr19:19302936..19305152-chr19:19382979..19386540,3	MCF-7	breast:
8	chr19:19301788..19305469-chr19:19308325..19310505,4	K562	blood:
9	chr19:19303122..19305309-chr19:19496096..19498095,2	K562	blood:
10	chr19:19299448..19305567-chr19:19306959..19319217,21	K562	blood:
11	chr19:19302224..19305333-chr19:19312708..19315616,6	MCF-7	breast:

No data

Variant related genes	Relation type
MEF2BNB-MEF2B	TF binding region
MEF2BNB	TF binding region
RFXANK	TF binding region
MEF2B	TF binding region
ENSG00000267629	Chromatin interaction
ENSG00000184162	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000167491	Chromatin interaction
ENSG00000129933	Chromatin interaction
ENSG00000213996	Chromatin interaction
ENSG00000105705	Chromatin interaction
ENSG00000064490	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10401713	0.90[CEU][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10403193	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10409380	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10409894	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10412238	0.90[CEU][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10424365	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1050483	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28618105	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56007657	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7250569	0.91[TSI][hapmap]
rs73537466	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv933613	chr19:19291456-19312244	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv961283	chr19:19293486-19312277	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19301800-19305000	Active TSS	A549	lung
2	chr19:19303800-19305200	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr19:19304000-19305000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:19304000-19305200	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr19:19304200-19305000	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr19:19304200-19305000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:19304200-19305000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:19304200-19305000	Enhancers	Fetal Heart	heart
9	chr19:19304200-19305000	Enhancers	Placenta	Placenta
10	chr19:19304200-19305000	Enhancers	Gastric	stomach
11	chr19:19304200-19305200	Enhancers	Liver	Liver
12	chr19:19304200-19305400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr19:19304200-19305600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr19:19304200-19305600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr19:19304200-19305600	Enhancers	Esophagus	oesophagus
16	chr19:19304200-19306200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:19304200-19306200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr19:19304200-19306200	Enhancers	Fetal Brain Male	brain
19	chr19:19304200-19307000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr19:19304200-19307600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr19:19304200-19307800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:19304200-19307800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:19304200-19307800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:19304200-19307800	Weak transcription	Aorta	Aorta
25	chr19:19304200-19307800	Weak transcription	Fetal Brain Female	brain
26	chr19:19304200-19307800	Weak transcription	Ovary	ovary
27	chr19:19304200-19313400	Weak transcription	Fetal Kidney	kidney
28	chr19:19304200-19313400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr19:19304400-19305000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr19:19304400-19305000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr19:19304400-19305000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr19:19304400-19305000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:19304400-19305000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:19304400-19305000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr19:19304400-19305000	Enhancers	Fetal Intestine Large	intestine
36	chr19:19304400-19305000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr19:19304400-19305000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr19:19304400-19305000	Flanking Active TSS	Dnd41	blood
39	chr19:19304400-19305000	Flanking Active TSS	Hela-S3	cervix
40	chr19:19304400-19305000	Enhancers	HepG2	liver
41	chr19:19304400-19305000	Flanking Active TSS	HMEC	breast
42	chr19:19304400-19305200	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr19:19304400-19305200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:19304400-19305200	Enhancers	Brain Angular Gyrus	brain
45	chr19:19304400-19305400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr19:19304400-19305400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr19:19304400-19305600	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr19:19304400-19305600	Enhancers	Brain Cingulate Gyrus	brain
49	chr19:19304400-19305600	Enhancers	Lung	lung
50	chr19:19304400-19305800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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