Variant report

Variant	rs12974813
Chromosome Location	chr19:55782365-55782366
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: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	chr19:55781147..55783926-chr19:55791213..55793069,2	K562	blood:
2	chr19:55779224..55783454-chr19:55783961..55787688,4	MCF-7	breast:
3	chr19:55777829..55780737-chr19:55781551..55785308,5	K562	blood:
4	chr19:55781376..55784377-chr19:55785140..55788292,4	K562	blood:
5	chr19:55780112..55782916-chr19:55901581..55903406,2	MCF-7	breast:
6	chr19:55781415..55783926-chr19:55789900..55793069,3	K562	blood:
7	chr19:55764819..55766373-chr19:55782092..55783886,2	K562	blood:
8	chr19:55774274..55779427-chr19:55781222..55784326,4	MCF-7	breast:
9	chr19:55767980..55772486-chr19:55779343..55783003,7	K562	blood:
10	chr19:55771722..55774869-chr19:55779849..55782643,3	MCF-7	breast:
11	chr19:55781901..55784843-chr19:55895713..55897357,2	K562	blood:
12	chr19:55781030..55783901-chr19:55788247..55790308,2	K562	blood:
13	chr19:55777858..55780757-chr19:55781409..55785312,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233493	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000105063	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11880781	0.92[ASN][1000 genomes]
rs12983085	0.82[JPT][hapmap]
rs62126354	0.92[ASN][1000 genomes]
rs67351527	0.92[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	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912454	chr19:55725410-55783552	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
6	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
7	nsv912458	chr19:55763409-55823822	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55771400-55783600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:55771400-55784800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:55771400-55787800	Weak transcription	Osteobl	bone
4	chr19:55771400-55788400	Weak transcription	Stomach Mucosa	stomach
5	chr19:55771400-55790400	Weak transcription	HSMM	muscle
6	chr19:55771400-55790400	Weak transcription	NHDF-Ad	bronchial
7	chr19:55771400-55791600	Weak transcription	Fetal Heart	heart
8	chr19:55771600-55782600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr19:55771600-55783400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:55771600-55783400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr19:55771600-55783600	Weak transcription	Placenta	Placenta
12	chr19:55771600-55785200	Weak transcription	Colon Smooth Muscle	Colon
13	chr19:55771600-55788000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr19:55771600-55790400	Weak transcription	HUVEC	blood vessel
15	chr19:55771800-55783000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr19:55771800-55788000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:55772000-55783000	Weak transcription	HepG2	liver
18	chr19:55772000-55783400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr19:55772000-55783400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr19:55772000-55783600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:55772000-55784200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:55772000-55784800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:55772200-55782600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr19:55772200-55784200	Weak transcription	Fetal Thymus	thymus
25	chr19:55772200-55787400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr19:55772200-55790400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr19:55772400-55789800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr19:55772800-55790200	Strong transcription	Fetal Stomach	stomach
29	chr19:55774000-55783000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:55774000-55784200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr19:55774400-55783600	Weak transcription	Left Ventricle	heart
32	chr19:55774400-55790400	Weak transcription	Psoas Muscle	Psoas
33	chr19:55777200-55783400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr19:55777800-55784600	Weak transcription	Colonic Mucosa	Colon
35	chr19:55777800-55788000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr19:55778000-55783000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr19:55778000-55783600	Weak transcription	Brain Hippocampus Middle	brain
38	chr19:55778000-55788200	Weak transcription	Brain Angular Gyrus	brain
39	chr19:55778200-55783600	Weak transcription	Fetal Lung	lung
40	chr19:55778200-55784400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr19:55778200-55784800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr19:55778200-55787600	Weak transcription	Hela-S3	cervix
43	chr19:55778200-55788200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr19:55778200-55790200	Weak transcription	Fetal Brain Male	brain
45	chr19:55778400-55784400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr19:55778400-55784800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr19:55778400-55786400	Weak transcription	GM12878-XiMat	blood
48	chr19:55778400-55790400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:55778400-55790400	Weak transcription	Fetal Kidney	kidney
50	chr19:55778600-55789200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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