Variant report

Variant	rs2872205
Chromosome Location	chr19:19034946-19034947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19034906-19035633	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr19:19034768-19035407	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr19:19034897-19035183	K562	blood:	n/a	n/a
4	POLR2A	chr19:19034927-19035290	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr19:19034945-19035172	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:19034805-19035271	U87	brain:	n/a	n/a
7	POLR2A	chr19:19034873-19035022	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:19034799-19036006	U87	brain:	n/a	n/a
9	POLR2A	chr19:19034940-19035095	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:19034856-19035965	HL-60	blood:	n/a	n/a
11	POLR2A	chr19:19034801-19036037	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:19006298..19008038-chr19:19034237..19036261,2	K562	blood:
2	chr19:19028307..19038067-chr19:19048419..19054729,15	MCF-7	breast:
3	chr19:19028142..19040542-chr19:19046967..19057144,34	MCF-7	breast:

No data

Variant related genes	Relation type
COPE	TF binding region
DDX49	TF binding region
ENSG00000051128	Chromatin interaction
ENSG00000130283	Chromatin interaction
ENSG00000269019	Chromatin interaction
ENSG00000223802	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10404879	1.00[MEX][hapmap]
rs10406282	1.00[MEX][hapmap]
rs10407260	1.00[MEX][hapmap]
rs10409265	1.00[MEX][hapmap]
rs10409395	1.00[MEX][hapmap]
rs10413216	1.00[MEX][hapmap]
rs10414535	1.00[MEX][hapmap]
rs10416054	1.00[MEX][hapmap]
rs10420559	1.00[MEX][hapmap]
rs10422058	1.00[MEX][hapmap]
rs2106660	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2158004	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2231993	1.00[ASN][1000 genomes]
rs28445835	1.00[MEX][hapmap]
rs28699197	1.00[MEX][hapmap]
rs6511012	1.00[MEX][hapmap]
rs7248183	1.00[MEX][hapmap]
rs8106846	1.00[MEX][hapmap]
rs999454	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv543926	chr19:19029529-19062771	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19031600-19035000	Weak transcription	Psoas Muscle	Psoas
2	chr19:19031600-19035200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:19031600-19035400	Weak transcription	Fetal Kidney	kidney
4	chr19:19031600-19035400	Weak transcription	Small Intestine	intestine
5	chr19:19031600-19037400	Strong transcription	NHLF	lung
6	chr19:19031600-19042600	Weak transcription	Fetal Heart	heart
7	chr19:19031600-19042600	Strong transcription	Fetal Intestine Small	intestine
8	chr19:19031600-19043200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:19031600-19043200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr19:19031600-19043200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:19031600-19044000	Weak transcription	HSMM	muscle
12	chr19:19031600-19045200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:19031800-19040600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:19031800-19042800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr19:19031800-19043400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:19031800-19043400	Strong transcription	Fetal Stomach	stomach
17	chr19:19032000-19037200	Strong transcription	Esophagus	oesophagus
18	chr19:19032000-19039800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr19:19032000-19039800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr19:19032000-19040000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:19032000-19040400	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr19:19032000-19040600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:19032000-19040600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr19:19032000-19043000	Strong transcription	Fetal Intestine Large	intestine
25	chr19:19032000-19045600	Strong transcription	Osteobl	bone
26	chr19:19032000-19046000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:19032200-19037400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr19:19032200-19037400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:19032200-19038800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr19:19032200-19039200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:19032200-19039400	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr19:19032200-19039600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr19:19032200-19040000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr19:19032200-19040000	Strong transcription	Brain Angular Gyrus	brain
35	chr19:19032200-19040000	Strong transcription	Brain Cingulate Gyrus	brain
36	chr19:19032200-19040000	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr19:19032200-19040000	Strong transcription	Fetal Thymus	thymus
38	chr19:19032200-19040000	Strong transcription	Ovary	ovary
39	chr19:19032200-19040000	Strong transcription	Thymus	Thymus
40	chr19:19032200-19040400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:19032200-19040400	Strong transcription	Brain Anterior Caudate	brain
42	chr19:19032200-19040400	Strong transcription	Brain Hippocampus Middle	brain
43	chr19:19032200-19040400	Strong transcription	Gastric	stomach
44	chr19:19032200-19040800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr19:19032200-19042400	Strong transcription	Fetal Brain Female	brain
46	chr19:19032200-19042600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr19:19032200-19042800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:19032200-19043200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:19032200-19045200	Strong transcription	NHEK	skin
50	chr19:19032200-19045600	Strong transcription	Lung	lung

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