Variant report

Variant	rs2945978
Chromosome Location	chr19:37013345-37013346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37012845..37016384-chr19:37017166..37020287,4	K562	blood:

Variant related genes	Relation type
ENSG00000254004	Chromatin interaction
ENSG00000228629	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1035777	0.81[ASN][1000 genomes]
rs11084861	0.82[ASN][1000 genomes]
rs11668689	0.80[ASN][1000 genomes]
rs11669816	0.80[ASN][1000 genomes]
rs12608512	0.81[ASN][1000 genomes]
rs1985980	0.81[ASN][1000 genomes]
rs2052728	0.82[ASN][1000 genomes]
rs2162296	0.85[ASN][1000 genomes]
rs2194976	0.82[ASN][1000 genomes]
rs2912399	0.82[ASN][1000 genomes]
rs2912400	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2912404	0.85[ASN][1000 genomes]
rs2912408	0.86[ASN][1000 genomes]
rs2912412	0.82[ASN][1000 genomes]
rs2912440	0.82[ASN][1000 genomes]
rs2912442	0.83[ASN][1000 genomes]
rs2912443	0.83[ASN][1000 genomes]
rs2912444	0.82[ASN][1000 genomes]
rs2912446	0.82[ASN][1000 genomes]
rs2945964	0.83[ASN][1000 genomes]
rs2967427	0.82[ASN][1000 genomes]
rs2967429	0.85[ASN][1000 genomes]
rs2967437	0.84[ASN][1000 genomes]
rs2967438	0.87[ASN][1000 genomes]
rs2967439	0.81[ASN][1000 genomes]
rs2967440	0.81[ASN][1000 genomes]
rs2967442	0.82[ASN][1000 genomes]
rs2967459	0.81[ASN][1000 genomes]
rs2967461	0.80[ASN][1000 genomes]
rs2967463	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2967464	0.83[ASN][1000 genomes]
rs2967473	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2967545	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3096620	0.82[ASN][1000 genomes]
rs3096637	0.83[ASN][1000 genomes]
rs3108605	0.81[ASN][1000 genomes]
rs6510551	0.82[ASN][1000 genomes]
rs66783290	0.80[ASN][1000 genomes]
rs7251805	0.80[ASN][1000 genomes]
rs7507224	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36999200-37014400	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:36999200-37018000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:36999800-37017400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr19:37000000-37016400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:37000000-37017000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:37000000-37017800	ZNF genes & repeats	Liver	Liver
7	chr19:37001000-37018000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr19:37001400-37017200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:37001600-37016400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr19:37001600-37018200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:37002400-37014000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:37002400-37014200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr19:37002600-37018000	ZNF genes & repeats	Fetal Brain Female	brain
14	chr19:37002800-37016400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:37002800-37016800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
16	chr19:37003200-37014400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr19:37003200-37014400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:37003200-37016800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:37003200-37017000	ZNF genes & repeats	Fetal Lung	lung
20	chr19:37003200-37018000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr19:37003400-37016800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
22	chr19:37003400-37017000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr19:37003400-37017200	ZNF genes & repeats	Dnd41	blood
24	chr19:37003400-37017400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
25	chr19:37003600-37014400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
26	chr19:37003800-37017000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr19:37003800-37018200	ZNF genes & repeats	Brain Germinal Matrix	brain
28	chr19:37003800-37018600	ZNF genes & repeats	A549	lung
29	chr19:37004200-37014400	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr19:37004200-37015000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
31	chr19:37004400-37014600	ZNF genes & repeats	Primary B cells from cord blood	blood
32	chr19:37004600-37014400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:37004600-37016400	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr19:37004600-37016600	ZNF genes & repeats	Fetal Muscle Leg	muscle
35	chr19:37004600-37017400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:37004800-37016600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:37005000-37014400	ZNF genes & repeats	GM12878-XiMat	blood
38	chr19:37005000-37016400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
39	chr19:37005000-37016800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
40	chr19:37007000-37014400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
41	chr19:37008600-37016400	Strong transcription	Osteobl	bone
42	chr19:37008600-37017800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr19:37008600-37017800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr19:37008800-37015800	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr19:37009000-37018400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:37009200-37017800	Weak transcription	Right Ventricle	heart
47	chr19:37009400-37014200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr19:37009400-37018400	Weak transcription	Stomach Mucosa	stomach
49	chr19:37009600-37014400	ZNF genes & repeats	Brain Substantia Nigra	brain
50	chr19:37009800-37013600	Weak transcription	HMEC	breast

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