Variant report

Variant	rs8109784
Chromosome Location	chr19:42395517-42395518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:42395481-42396452	GM12878	blood:	n/a	n/a
2	TCF12	chr19:42395512-42395968	A549	lung:	n/a	n/a
3	POLR2A	chr19:42394843-42397312	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr19:42395415-42395728	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr19:42395349-42395831	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42385706..42396512-chr19:42423854..42433641,19	K562	blood:
2	chr19:42386993..42388717-chr19:42395011..42397502,2	K562	blood:
3	chr19:42393532..42395755-chr19:42398310..42400893,2	K562	blood:
4	chr19:42394591..42396472-chr19:42400975..42402607,2	K562	blood:
5	chr19:42385266..42389164-chr19:42392215..42397025,5	MCF-7	breast:

No data

Variant related genes	Relation type
ARHGEF1	TF binding region
ENSG00000076928	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10401189	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10401937	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10402667	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10403081	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10417495	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10419314	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12104228	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16975619	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2288509	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2288510	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2288511	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2288512	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2303798	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28396197	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28521795	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28706300	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6509003	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs717225	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7252790	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7252800	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7253691	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7260129	0.80[AMR][1000 genomes]
rs73550603	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73550610	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73550618	1.00[EUR][1000 genomes]
rs8109959	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8110305	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8113339	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8113686	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs891169	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs891170	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs891171	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs891172	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv1061878	chr19:42325490-42416056	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv911776	chr19:42343526-42416056	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv911777	chr19:42357455-42521108	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv911778	chr19:42358362-42416056	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42389000-42396000	Weak transcription	Aorta	Aorta
2	chr19:42389000-42396000	Weak transcription	Ovary	ovary
3	chr19:42389200-42407200	Weak transcription	Fetal Kidney	kidney
4	chr19:42389200-42429200	Weak transcription	Right Atrium	heart
5	chr19:42389400-42398200	Weak transcription	Colon Smooth Muscle	Colon
6	chr19:42389400-42402000	Weak transcription	Psoas Muscle	Psoas
7	chr19:42389400-42406000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:42389400-42411400	Weak transcription	Fetal Brain Male	brain
9	chr19:42389800-42409000	Strong transcription	Fetal Stomach	stomach
10	chr19:42390800-42411200	Weak transcription	Hela-S3	cervix
11	chr19:42391400-42396800	Weak transcription	Brain Anterior Caudate	brain
12	chr19:42391400-42407400	Weak transcription	K562	blood
13	chr19:42391600-42396000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr19:42391600-42399600	Weak transcription	HUVEC	blood vessel
15	chr19:42391600-42404600	Weak transcription	HSMM	muscle
16	chr19:42392000-42399600	Strong transcription	Lung	lung
17	chr19:42392000-42404000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:42392000-42412600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr19:42392000-42412600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr19:42392000-42412600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:42392200-42395600	Weak transcription	Right Ventricle	heart
22	chr19:42392200-42397400	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr19:42392200-42400800	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr19:42392200-42401400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr19:42392200-42407600	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr19:42392200-42408400	Strong transcription	Liver	Liver
27	chr19:42392200-42412400	Strong transcription	Fetal Muscle Leg	muscle
28	chr19:42392200-42412800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr19:42392400-42396000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr19:42392400-42398200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr19:42392400-42399200	Weak transcription	Fetal Lung	lung
32	chr19:42392400-42399600	Weak transcription	Small Intestine	intestine
33	chr19:42392400-42399800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr19:42392400-42400400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr19:42392400-42401800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr19:42392400-42407600	Strong transcription	Fetal Intestine Small	intestine
37	chr19:42392400-42410200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr19:42392400-42412400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:42392400-42413200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:42392600-42396400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:42392600-42396600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:42392600-42396800	Strong transcription	GM12878-XiMat	blood
43	chr19:42392600-42397400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr19:42392600-42398200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:42392600-42399800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr19:42392600-42400600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:42392600-42402200	Strong transcription	Adipose Nuclei	Adipose
48	chr19:42392600-42406200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:42392600-42407400	Strong transcription	Colonic Mucosa	Colon
50	chr19:42392600-42411800	Strong transcription	Placenta	Placenta

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