Variant report

Variant	rs55994613
Chromosome Location	chr19:40032636-40032637
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr19:40032572-40033721	H1-neurons	neurons:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39891586..39893179-chr19:40030915..40033387,2	MCF-7	breast:
2	chr19:40031156..40032719-chr19:40323225..40324981,2	MCF-7	breast:
3	chr19:39933642..39937454-chr19:40029470..40032868,6	MCF-7	breast:
4	chr19:39901022..39904778-chr19:40029097..40032980,4	MCF-7	breast:
5	chr19:39925244..39927347-chr19:40032319..40034219,2	MCF-7	breast:
6	chr19:39988268..39989070-chr19:40032218..40033047,2	MCF-7	breast:
7	chr19:39924990..39926577-chr19:40031100..40033171,2	MCF-7	breast:

No data

Variant related genes	Relation type
EID2	TF binding region
ENSG00000090924	Chromatin interaction
ENSG00000105193	Chromatin interaction
ENSG00000196235	Chromatin interaction
ENSG00000105204	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12608773	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12610740	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12610751	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12610833	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12611125	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12972285	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12972675	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12973775	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12978311	0.81[AMR][1000 genomes]
rs12980249	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1368469	0.84[AMR][1000 genomes]
rs17795475	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34271968	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34856311	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34885802	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35038530	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35939822	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3746086	0.93[ASN][1000 genomes]
rs4803258	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4803259	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59485553	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60587381	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247184	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7247218	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7257553	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7257904	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7258348	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv911692	chr19:39979966-40046863	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv911693	chr19:39986241-40033574	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv579509	chr19:40004640-40133438	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40030800-40033000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:40031000-40032800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:40031000-40037200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:40031200-40032800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr19:40031200-40032800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr19:40031200-40032800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr19:40031200-40032800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:40031200-40032800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:40031200-40032800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:40031200-40032800	Weak transcription	Placenta	Placenta
11	chr19:40031200-40033200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr19:40031200-40033800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr19:40031200-40034800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:40031200-40043600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:40031200-40049600	Weak transcription	Right Atrium	heart
16	chr19:40031400-40032800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:40031400-40032800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:40031400-40032800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:40031400-40032800	Weak transcription	Brain Anterior Caudate	brain
20	chr19:40031400-40032800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr19:40031400-40032800	Weak transcription	Brain Germinal Matrix	brain
22	chr19:40031400-40032800	Weak transcription	Brain Hippocampus Middle	brain
23	chr19:40031400-40032800	Weak transcription	HMEC	breast
24	chr19:40031400-40032800	Weak transcription	NHEK	skin
25	chr19:40031400-40033200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr19:40031400-40033400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr19:40031400-40033600	Enhancers	HUVEC	blood vessel
28	chr19:40031400-40033800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:40031400-40034000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr19:40031400-40034200	Weak transcription	Primary T cells from cord blood	blood
31	chr19:40031400-40034200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr19:40031400-40034800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:40031400-40042200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:40031600-40032800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr19:40031600-40032800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:40031600-40032800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:40031600-40032800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr19:40031600-40033400	Weak transcription	Fetal Lung	lung
39	chr19:40031600-40034000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:40031600-40034200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr19:40031800-40032800	Weak transcription	A549	lung
42	chr19:40032200-40033400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr19:40032600-40033000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:40032600-40033400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:40032600-40033600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:40032600-40033600	Enhancers	Primary B cells from cord blood	blood
47	chr19:40032600-40033800	Enhancers	Primary B cells from peripheral blood	blood
48	chr19:40032600-40033800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr19:40032600-40033800	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr19:40032600-40038000	Enhancers	Primary T helper cells PMA-I stimulated	--

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