Variant report

Variant	rs2113113
Chromosome Location	chr19:55784171-55784172
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55783343..55785144-chr19:55895857..55897635,2	K562	blood:
2	chr19:55726767..55729433-chr19:55782739..55786212,3	K562	blood:
3	chr19:55761815..55764585-chr19:55783782..55786476,2	K562	blood:
4	chr19:55777829..55780737-chr19:55781551..55785308,5	K562	blood:
5	chr19:55781376..55784377-chr19:55785140..55788292,4	K562	blood:
6	chr19:55779224..55783454-chr19:55783961..55787688,4	MCF-7	breast:
7	chr19:55770100..55772551-chr19:55782863..55784991,2	MCF-7	breast:
8	chr19:55774274..55779427-chr19:55781222..55784326,4	MCF-7	breast:
9	chr19:55781901..55784843-chr19:55895713..55897357,2	K562	blood:
10	chr19:55777858..55780757-chr19:55781409..55785312,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233493	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000108107	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10404178	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10411896	0.83[AMR][1000 genomes]
rs4806655	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67351527	0.85[AFR][1000 genomes]
rs8105032	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	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
6	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	chr19:55771400-55784800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:55771400-55787800	Weak transcription	Osteobl	bone
3	chr19:55771400-55788400	Weak transcription	Stomach Mucosa	stomach
4	chr19:55771400-55790400	Weak transcription	HSMM	muscle
5	chr19:55771400-55790400	Weak transcription	NHDF-Ad	bronchial
6	chr19:55771400-55791600	Weak transcription	Fetal Heart	heart
7	chr19:55771600-55785200	Weak transcription	Colon Smooth Muscle	Colon
8	chr19:55771600-55788000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr19:55771600-55790400	Weak transcription	HUVEC	blood vessel
10	chr19:55771800-55788000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:55772000-55784200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:55772000-55784800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:55772200-55784200	Weak transcription	Fetal Thymus	thymus
14	chr19:55772200-55787400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr19:55772200-55790400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:55772400-55789800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr19:55772800-55790200	Strong transcription	Fetal Stomach	stomach
18	chr19:55774000-55784200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:55774400-55790400	Weak transcription	Psoas Muscle	Psoas
20	chr19:55777800-55784600	Weak transcription	Colonic Mucosa	Colon
21	chr19:55777800-55788000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:55778000-55788200	Weak transcription	Brain Angular Gyrus	brain
23	chr19:55778200-55784400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:55778200-55784800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr19:55778200-55787600	Weak transcription	Hela-S3	cervix
26	chr19:55778200-55788200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr19:55778200-55790200	Weak transcription	Fetal Brain Male	brain
28	chr19:55778400-55784400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr19:55778400-55784800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr19:55778400-55786400	Weak transcription	GM12878-XiMat	blood
31	chr19:55778400-55790400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:55778400-55790400	Weak transcription	Fetal Kidney	kidney
33	chr19:55778600-55789200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:55778800-55789800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr19:55778800-55790200	Strong transcription	Fetal Intestine Small	intestine
36	chr19:55779000-55786000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:55779000-55790200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:55779200-55789400	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:55779200-55789600	Strong transcription	Fetal Brain Female	brain
40	chr19:55779200-55789800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr19:55779800-55786600	Strong transcription	Ovary	ovary
42	chr19:55779800-55788000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr19:55779800-55788800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr19:55780000-55790400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:55780000-55790400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr19:55780200-55785800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:55780200-55786000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr19:55780200-55789200	Strong transcription	Brain Germinal Matrix	brain
49	chr19:55780200-55789800	Strong transcription	Fetal Intestine Large	intestine
50	chr19:55780200-55789800	Strong transcription	Fetal Muscle Leg	muscle

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