Variant report

Variant	rs56002756
Chromosome Location	chr19:35741975-35741976
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35654052..35658593-chr19:35736953..35742683,9	K562	blood:
2	chr19:35639021..35648956-chr19:35737438..35742195,14	K562	blood:
3	chr19:35739927..35742259-chr19:35996033..35997931,2	K562	blood:
4	chr19:35625494..35628326-chr19:35738306..35742693,4	MCF-7	breast:
5	chr19:35644753..35650464-chr19:35737058..35742117,12	K562	blood:
6	chr19:35603872..35607710-chr19:35737437..35742074,6	MCF-7	breast:
7	chr19:35631922..35638346-chr19:35737284..35742337,12	MCF-7	breast:
8	chr19:35630586..35637861-chr19:35737374..35742554,18	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153902	Chromatin interaction
ENSG00000089356	Chromatin interaction
ENSG00000161249	Chromatin interaction
ENSG00000089327	Chromatin interaction
ENSG00000221946	Chromatin interaction
ENSG00000266964	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10416533	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12459658	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17173026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882695	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2005927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2280746	0.92[EUR][1000 genomes]
rs4805116	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4806114	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4806115	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4806121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4806125	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55745204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55863037	0.92[EUR][1000 genomes]
rs55877896	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs66868858	0.92[EUR][1000 genomes]
rs73029949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045840	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73045852	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73045860	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7508022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv1066553	chr19:35698638-35749563	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	nsv978896	chr19:35724047-35748472	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
10	esv1836312	chr19:35741456-35786868	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35740400-35744600	Weak transcription	Left Ventricle	heart
2	chr19:35740600-35745200	Weak transcription	Right Atrium	heart
3	chr19:35740600-35748000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:35740600-35748200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr19:35740800-35744200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:35740800-35747000	Weak transcription	Small Intestine	intestine
7	chr19:35740800-35747400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:35741000-35744400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:35741000-35746000	Weak transcription	Fetal Heart	heart
10	chr19:35741000-35747400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr19:35741000-35748000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:35741000-35748200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr19:35741200-35742000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr19:35741200-35742000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:35741200-35742400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:35741200-35742600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:35741200-35744600	Weak transcription	Right Ventricle	heart
18	chr19:35741200-35744800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr19:35741200-35745400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:35741200-35758000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr19:35741400-35742000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:35741400-35742000	Weak transcription	NHEK	skin
23	chr19:35741400-35742200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr19:35741400-35742400	Weak transcription	Placenta	Placenta
25	chr19:35741400-35742800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:35741400-35742800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr19:35741400-35742800	Genic enhancers	Fetal Intestine Small	intestine
28	chr19:35741400-35743200	Strong transcription	K562	blood
29	chr19:35741400-35743400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr19:35741400-35744000	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr19:35741400-35744200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr19:35741400-35744200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr19:35741400-35744200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:35741400-35744400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr19:35741400-35745400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:35741400-35748200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr19:35741400-35757800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:35741600-35742000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr19:35741600-35742000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr19:35741600-35742400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:35741600-35742400	Weak transcription	Gastric	stomach
42	chr19:35741600-35742400	Weak transcription	Lung	lung
43	chr19:35741600-35742400	Weak transcription	GM12878-XiMat	blood
44	chr19:35741600-35742600	Strong transcription	Colonic Mucosa	Colon
45	chr19:35741600-35742600	Genic enhancers	Fetal Intestine Large	intestine
46	chr19:35741600-35742600	Genic enhancers	HepG2	liver
47	chr19:35741600-35742800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr19:35741600-35743200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:35741600-35743200	Genic enhancers	Pancreas	Pancrea
50	chr19:35741600-35743200	Strong transcription	Rectal Mucosa Donor 31	rectum

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