Variant report

Variant	rs62119693
Chromosome Location	chr19:39851511-39851512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39849660..39851695-chr19:39853601..39855209,2	K562	blood:
2	chr19:39845858..39848835-chr19:39849881..39851532,2	K562	blood:
3	chr19:39849513..39851836-chr19:39891478..39893245,2	K562	blood:
4	chr19:39851453..39853087-chr19:39880088..39881805,2	MCF-7	breast:
5	chr19:39850438..39852750-chr19:39855800..39859218,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179134	Chromatin interaction
ENSG00000006712	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs40469	0.82[EUR][1000 genomes]
rs45591338	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs45613331	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61736260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62122887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62122888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62122889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62122891	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62122892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
4	nsv911681	chr19:39797716-39856246	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv10629	chr19:39811570-39886212	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv870133	chr19:39822160-39938468	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
7	nsv911682	chr19:39847132-39914748	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
8	nsv911683	chr19:39847132-39924129	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	185 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39834200-39859200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:39834800-39852800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:39834800-39852800	Strong transcription	Fetal Muscle Trunk	muscle
4	chr19:39834800-39880000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:39835600-39853600	Strong transcription	Placenta	Placenta
6	chr19:39835800-39880200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:39835800-39880200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr19:39836200-39880400	Strong transcription	Primary T cells from cord blood	blood
9	chr19:39836400-39862600	Strong transcription	Duodenum Mucosa	Duodenum
10	chr19:39836600-39864000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr19:39836600-39880400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr19:39836600-39880400	Strong transcription	Fetal Brain Female	brain
13	chr19:39836800-39852000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:39836800-39852600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:39837400-39880000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr19:39837600-39863600	Strong transcription	Fetal Intestine Small	intestine
17	chr19:39837800-39854400	Strong transcription	Fetal Stomach	stomach
18	chr19:39837800-39855400	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr19:39838000-39851800	Strong transcription	Liver	Liver
20	chr19:39838000-39880000	Strong transcription	Brain Germinal Matrix	brain
21	chr19:39838200-39858200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:39838200-39858200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:39838200-39862600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr19:39838400-39853200	Strong transcription	A549	lung
25	chr19:39838600-39852600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:39838600-39880400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr19:39838800-39880200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:39839000-39857600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr19:39839000-39858200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr19:39839200-39851800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:39839200-39852600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:39839200-39853400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:39839200-39879200	Strong transcription	Dnd41	blood
34	chr19:39841000-39852600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:39841400-39852200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:39841600-39880000	Strong transcription	Fetal Intestine Large	intestine
37	chr19:39841800-39855400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr19:39842000-39851600	Strong transcription	HepG2	liver
39	chr19:39842000-39851800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr19:39842000-39852000	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr19:39842000-39864200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr19:39842000-39880000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr19:39842200-39880200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:39842200-39880400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr19:39842400-39853200	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr19:39842400-39856600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:39842400-39862400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:39842400-39880400	Strong transcription	Thymus	Thymus
49	chr19:39842600-39851600	Strong transcription	HUVEC	blood vessel
50	chr19:39842600-39854000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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