Variant report

Variant	rs9284430
Chromosome Location	chr19:55738147-55738148
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:55733276-55738529	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:55736380-55738341	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr19:55737989-55738189	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr19:55736383-55741530	GM12892	blood:	n/a	n/a
5	POLR2A	chr19:55737892-55741114	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:55738032-55738214	K562	blood:	n/a	n/a
7	POLR2A	chr19:55736364-55739717	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr19:55736376-55738299	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr19:55733626-55741033	K562	blood:	n/a	n/a
10	POLR2A	chr19:55737941-55738213	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr19:55736578-55741731	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr19:55736425-55741635	K562	blood:	n/a	n/a
13	POLR2A	chr19:55736640-55738596	HepG2	liver:	n/a	n/a
14	POLR2A	chr19:55736406-55738214	GM12892	blood:	n/a	n/a
15	POLR2A	chr19:55736349-55738387	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:55736615-55738248	GM12891	blood:	n/a	n/a
17	POLR2A	chr19:55736540-55744341	HL-60	blood:	n/a	n/a
18	POLR2A	chr19:55737403-55738292	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr19:55731465-55741552	K562	blood:	n/a	n/a
20	POLR2A	chr19:55736671-55738346	U87	brain:	n/a	n/a
21	POLR2A	chr19:55738012-55741087	GM12878	blood:	n/a	n/a
22	POLR2A	chr19:55736512-55741497	HL-60	blood:	n/a	n/a
23	POLR2A	chr19:55736383-55738344	U87	brain:	n/a	n/a
24	POLR2A	chr19:55736559-55738273	K562	blood:	n/a	n/a
25	POLR2A	chr19:55736464-55741608	GM12892	blood:	n/a	n/a
26	POLR2A	chr19:55736720-55738479	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55732279..55738678-chr19:55765531..55770516,7	K562	blood:
2	chr19:55736478..55738648-chr19:55750947..55753779,2	K562	blood:
3	chr19:55737210..55740229-chr19:55741126..55744249,3	MCF-7	breast:
4	chr19:55736940..55740249-chr19:55897225..55900387,3	K562	blood:
5	chr19:55736575..55738793-chr19:55769011..55771822,2	MCF-7	breast:
6	chr19:55736988..55739984-chr19:55743575..55745735,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269808	TF binding region
ENSG00000180089	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000266462	Chromatin interaction
ENSG00000108107	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4644955	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912454	chr19:55725410-55783552	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats 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	59 gene(s)	inside rSNPs	diseases
5	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
6	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 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	chr19:55728600-55740200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr19:55728600-55741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:55728600-55742400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:55728800-55738200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr19:55728800-55738400	Weak transcription	Fetal Heart	heart
6	chr19:55728800-55738400	Weak transcription	Osteobl	bone
7	chr19:55728800-55738600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:55728800-55739200	Weak transcription	Left Ventricle	heart
9	chr19:55728800-55739600	Weak transcription	GM12878-XiMat	blood
10	chr19:55728800-55740000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr19:55728800-55740600	Weak transcription	Small Intestine	intestine
12	chr19:55728800-55741000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:55728800-55742400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:55728800-55743800	Weak transcription	HSMM	muscle
15	chr19:55728800-55744000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:55728800-55745600	Weak transcription	HSMMtube	muscle
17	chr19:55728800-55747800	Weak transcription	Psoas Muscle	Psoas
18	chr19:55728800-55747800	Weak transcription	NH-A	brain
19	chr19:55729000-55738200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr19:55729000-55738200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:55729200-55738400	Weak transcription	NHEK	skin
22	chr19:55729400-55744000	Weak transcription	NHDF-Ad	bronchial
23	chr19:55729400-55766200	Weak transcription	Fetal Brain Male	brain
24	chr19:55730800-55744000	Weak transcription	Fetal Kidney	kidney
25	chr19:55732200-55738800	Weak transcription	Liver	Liver
26	chr19:55732400-55739200	Weak transcription	Colon Smooth Muscle	Colon
27	chr19:55732600-55739800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr19:55732800-55738600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:55732800-55742200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr19:55732800-55742200	Weak transcription	Fetal Lung	lung
31	chr19:55733800-55742200	Weak transcription	HMEC	breast
32	chr19:55733800-55758600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr19:55734000-55738600	Strong transcription	Fetal Stomach	stomach
34	chr19:55734000-55758000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:55734000-55758000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:55734200-55758400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr19:55734600-55759800	Strong transcription	Brain Anterior Caudate	brain
38	chr19:55734800-55758600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr19:55735000-55738600	Strong transcription	Right Ventricle	heart
40	chr19:55735000-55739000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr19:55735000-55742600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr19:55735000-55762400	Strong transcription	Thymus	Thymus
43	chr19:55735200-55742600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:55735200-55744600	Strong transcription	Brain Cingulate Gyrus	brain
45	chr19:55735200-55762200	Strong transcription	Fetal Thymus	thymus
46	chr19:55735400-55739200	Strong transcription	Spleen	Spleen
47	chr19:55735600-55738200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr19:55735600-55738600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr19:55735800-55738200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:55735800-55738600	Weak transcription	Pancreas	Pancrea

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