Variant report

Variant	rs3746263
Chromosome Location	chr19:19006666-19006667
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19005501..19008972-chr19:19028688..19032169,4	K562	blood:
2	chr19:19005632..19006817-chr19:19097231..19098010,3	K562	blood:
3	chr19:18958703..18961204-chr19:19005451..19007447,2	MCF-7	breast:
4	chr19:18976234..18978409-chr19:19004531..19006846,2	MCF-7	breast:
5	chr19:18941134..18944715-chr19:19004445..19006890,3	MCF-7	breast:
6	chr19:19005482..19006695-chr19:19097291..19098316,11	MCF-7	breast:
7	chr19:19005129..19007826-chr19:19028734..19032982,4	MCF-7	breast:
8	chr19:19005608..19006831-chr19:19051981..19052661,4	K562	blood:
9	chr19:19004982..19008022-chr19:19042434..19045091,3	K562	blood:
10	chr19:19005183..19007690-chr19:19050687..19053273,2	MCF-7	breast:
11	chr19:19006298..19008038-chr19:19034237..19036261,2	K562	blood:
12	chr19:19005974..19006784-chr19:19097290..19098023,2	MCF-7	breast:
13	chr19:19006401..19008657-chr19:19231143..19233883,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269019	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000051128	Chromatin interaction
ENSG00000064545	Chromatin interaction
ENSG00000005007	Chromatin interaction
ENSG00000105671	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11881216	0.82[EUR][1000 genomes]
rs2238659	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs968530	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	esv3340381	chr19:19005752-19008350	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv16767	chr19:19006542-19007176	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	esv1823390	chr19:19006569-19017777	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19004800-19007200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:19004800-19007800	Active TSS	Brain Substantia Nigra	brain
3	chr19:19004800-19008400	Active TSS	Brain Cingulate Gyrus	brain
4	chr19:19005000-19007200	Active TSS	Brain Anterior Caudate	brain
5	chr19:19005000-19007400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:19005000-19007400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr19:19005000-19007600	Active TSS	Brain Angular Gyrus	brain
8	chr19:19005400-19006800	Active TSS	Hela-S3	cervix
9	chr19:19005600-19006800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:19005600-19006800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:19005600-19007400	Active TSS	H9 Cell Line	embryonic stem cell
12	chr19:19005600-19007400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:19005600-19007600	Enhancers	Pancreas	Pancrea
14	chr19:19005800-19006800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr19:19005800-19006800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr19:19005800-19006800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
17	chr19:19005800-19006800	Flanking Bivalent TSS/Enh	HMEC	breast
18	chr19:19005800-19007000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:19005800-19007000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr19:19005800-19007400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:19005800-19007400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr19:19005800-19007400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:19005800-19007400	Enhancers	Liver	Liver
24	chr19:19005800-19007600	Enhancers	Lung	lung
25	chr19:19006000-19006800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr19:19006000-19006800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:19006000-19006800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:19006000-19006800	Enhancers	Primary B cells from cord blood	blood
29	chr19:19006000-19006800	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr19:19006000-19006800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:19006000-19006800	Active TSS	Left Ventricle	heart
32	chr19:19006000-19006800	Active TSS	HSMMtube	muscle
33	chr19:19006000-19006800	Active TSS	NHLF	lung
34	chr19:19006000-19006800	Bivalent/Poised TSS	Osteobl	bone
35	chr19:19006000-19007000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:19006000-19007200	Active TSS	H1 Cell Line	embryonic stem cell
37	chr19:19006000-19007200	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr19:19006000-19007200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:19006000-19007200	Active TSS	Brain Hippocampus Middle	brain
40	chr19:19006000-19007200	Active TSS	Psoas Muscle	Psoas
41	chr19:19006000-19007400	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr19:19006000-19007400	Active TSS	A549	lung
43	chr19:19006000-19007400	Active TSS	HepG2	liver
44	chr19:19006000-19007400	Active TSS	NH-A	brain
45	chr19:19006000-19007600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:19006000-19007600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr19:19006000-19007600	Active TSS	HSMM	muscle
48	chr19:19006000-19008000	Active TSS	Fetal Brain Female	brain
49	chr19:19006200-19006800	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr19:19006200-19006800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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