Variant report

Variant	rs10330
Chromosome Location	chr19:19017862-19017863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19015110-19018951	GM12878	blood:	n/a	n/a
2	CTCF	chr19:19017718-19017954	T-47D	breast:	n/a	n/a
3	POLR2A	chr19:19015099-19019155	HL-60	blood:	n/a	n/a
4	POLR2A	chr19:19017376-19018900	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:19015048-19018213	GM12891	blood:	n/a	n/a
6	POLR2A	chr19:19017762-19017990	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr19:19014963-19018658	GM12892	blood:	n/a	n/a
8	POLR2A	chr19:19015125-19019092	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:19016142-19018923	GM12892	blood:	n/a	n/a
10	POLR2A	chr19:19015074-19019042	HepG2	liver:	n/a	n/a
11	POLR2A	chr19:19017326-19017873	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr19:19013616-19018893	K562	blood:	n/a	n/a
13	POLR2A	chr19:19015383-19018936	GM12891	blood:	n/a	n/a
14	POLR2A	chr19:19017520-19018411	HL-60	blood:	n/a	n/a
15	POLR2A	chr19:19015068-19018608	GM12891	blood:	n/a	n/a
16	POLR2A	chr19:19016008-19018254	K562	blood:	n/a	n/a
17	POLR2A	chr19:19017741-19018613	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr19:19015131-19019150	GM12892	blood:	n/a	n/a
19	POLR2A	chr19:19015119-19018797	K562	blood:	n/a	n/a
20	POLR2A	chr19:19015725-19018609	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19003756..19013137-chr19:19015458..19020402,12	K562	blood:
2	chr19:19008209..19011706-chr19:19016535..19019797,4	MCF-7	breast:
3	chr19:19017449..19020202-chr19:19023767..19026462,3	K562	blood:
4	chr19:19014514..19025012-chr19:19028545..19031608,12	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DDX49-1	chr19:19017011-19018999	ENSG00000248819

No data

Variant related genes	Relation type
COPE	TF binding region
ENSG00000105669	Chromatin interaction
ENSG00000223802	Chromatin interaction
ENSG00000130283	Chromatin interaction
ENSG00000105671	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2106660	0.81[ASW][hapmap];0.85[TSI][hapmap]
rs2158004	0.81[ASW][hapmap];0.85[TSI][hapmap]
rs2231993	0.85[AMR][1000 genomes]
rs3761084	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs55962391	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs55988241	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57783514	0.89[ASN][1000 genomes]
rs59977691	0.89[ASN][1000 genomes]
rs60774903	0.89[ASN][1000 genomes]
rs7250615	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73003085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73003087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73003090	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers 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	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv470132	chr19:18964442-19054720	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv911301	chr19:18994638-19077385	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911302	chr19:18995201-19088981	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv817819	chr19:19009470-19022204	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19006600-19027800	Weak transcription	NHDF-Ad	bronchial
2	chr19:19006600-19029000	Weak transcription	Fetal Kidney	kidney
3	chr19:19007000-19029000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:19007400-19025400	Weak transcription	NH-A	brain
5	chr19:19007400-19026000	Weak transcription	A549	lung
6	chr19:19007400-19027800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:19007600-19018200	Weak transcription	HSMM	muscle
8	chr19:19007600-19018600	Weak transcription	HMEC	breast
9	chr19:19007600-19028600	Weak transcription	Right Atrium	heart
10	chr19:19008200-19026000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:19008400-19018600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:19008800-19024200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:19009200-19026800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr19:19009400-19024000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:19009400-19027200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:19009600-19022200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:19009600-19022600	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr19:19009600-19022600	Strong transcription	Stomach Smooth Muscle	stomach
19	chr19:19009600-19026400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:19009600-19026400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:19009600-19026800	Strong transcription	Fetal Brain Female	brain
22	chr19:19009600-19029200	Weak transcription	Psoas Muscle	Psoas
23	chr19:19009800-19020400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:19009800-19022600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:19009800-19022600	Strong transcription	Placenta Amnion	Placenta Amnion
26	chr19:19009800-19026800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:19009800-19026800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr19:19009800-19026800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr19:19009800-19026800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr19:19009800-19028000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:19010000-19022200	Strong transcription	Pancreas	Pancrea
32	chr19:19010000-19022400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr19:19010000-19022600	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr19:19010000-19026800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:19010000-19026800	Strong transcription	Fetal Intestine Small	intestine
36	chr19:19010000-19026800	Strong transcription	Placenta	Placenta
37	chr19:19010200-19018000	Weak transcription	Stomach Mucosa	stomach
38	chr19:19010200-19018200	Strong transcription	Fetal Intestine Large	intestine
39	chr19:19010200-19026200	Strong transcription	Liver	Liver
40	chr19:19010200-19026200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr19:19010200-19026600	Weak transcription	Hela-S3	cervix
42	chr19:19010400-19022200	Strong transcription	Ovary	ovary
43	chr19:19010600-19022000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr19:19010600-19026400	Strong transcription	Fetal Muscle Leg	muscle
45	chr19:19010800-19026400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr19:19011000-19024400	Strong transcription	Fetal Lung	lung
47	chr19:19012600-19020800	Weak transcription	Primary B cells from cord blood	blood
48	chr19:19012600-19021800	Weak transcription	K562	blood
49	chr19:19012600-19028000	Strong transcription	Fetal Stomach	stomach
50	chr19:19013400-19018000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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