Variant report

Variant	rs184623539
Chromosome Location	chr19:53114868-53114869
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52406735..52408758-chr19:53114766..53117318,2	K562	blood:
2	chr19:53110675..53112715-chr19:53114135..53115659,2	K562	blood:
3	chr19:53105509..53107487-chr19:53113900..53115997,2	K562	blood:
4	chr19:53109871..53112715-chr19:53114135..53116216,3	K562	blood:

Variant related genes	Relation type
ENSG00000198093	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1065584	chr19:53043126-53127459	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv833874	chr19:53058014-53257875	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv912305	chr19:53092465-53349850	Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv912306	chr19:53092465-53400760	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv912307	chr19:53092465-53433054	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv912308	chr19:53092465-53436337	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv912309	chr19:53092465-53440653	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv912310	chr19:53092465-53451291	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv828616	chr19:53095216-53137823	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv912311	chr19:53103875-53212361	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv912312	chr19:53103875-53296371	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	nsv912313	chr19:53103875-53436337	ZNF genes & repeats Weak transcription Strong transcription Active TSS 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	30 gene(s)	inside rSNPs	diseases
14	nsv912314	chr19:53105547-53144082	Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv912315	chr19:53105547-53149967	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
16	nsv912316	chr19:53105547-53158023	Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv912317	chr19:53105547-53440653	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv1066762	chr19:53112568-53552217	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
19	nsv519070	chr19:53114267-53115843	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv527815	chr19:53114267-53117531	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
21	nsv817857	chr19:53114267-53120559	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53105000-53115800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:53105200-53115800	Weak transcription	HUVEC	blood vessel
3	chr19:53105200-53116200	Weak transcription	Left Ventricle	heart
4	chr19:53105200-53116600	Weak transcription	Brain Substantia Nigra	brain
5	chr19:53105200-53120200	Weak transcription	Aorta	Aorta
6	chr19:53105400-53115600	Weak transcription	HSMM	muscle
7	chr19:53105400-53116000	Weak transcription	Fetal Brain Female	brain
8	chr19:53105400-53116400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr19:53105400-53116400	Weak transcription	Ovary	ovary
10	chr19:53105400-53121200	Weak transcription	Fetal Brain Male	brain
11	chr19:53105600-53115000	Weak transcription	Pancreas	Pancrea
12	chr19:53105600-53115400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:53105600-53115400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:53105600-53115400	Weak transcription	Brain Germinal Matrix	brain
15	chr19:53105600-53115600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:53105600-53115600	Weak transcription	Adipose Nuclei	Adipose
17	chr19:53105600-53116200	Weak transcription	Brain Anterior Caudate	brain
18	chr19:53105800-53115200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr19:53105800-53115400	Weak transcription	Fetal Lung	lung
20	chr19:53105800-53115400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:53105800-53115600	Weak transcription	Placenta	Placenta
22	chr19:53105800-53116200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr19:53105800-53116200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:53105800-53116200	Weak transcription	Colon Smooth Muscle	Colon
25	chr19:53105800-53116400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr19:53105800-53117000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:53105800-53129000	Weak transcription	Hela-S3	cervix
28	chr19:53106000-53115400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr19:53106000-53115600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr19:53106000-53115600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr19:53106000-53115600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr19:53106000-53115600	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr19:53106200-53116400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr19:53106400-53116400	Weak transcription	Fetal Kidney	kidney
35	chr19:53106800-53116000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr19:53107000-53136600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:53107400-53115400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:53107400-53115600	Weak transcription	K562	blood
39	chr19:53107600-53115600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:53108600-53115000	Weak transcription	Thymus	Thymus
41	chr19:53108600-53115200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:53109000-53116200	Weak transcription	Fetal Muscle Leg	muscle
43	chr19:53109200-53115400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr19:53109600-53115400	Weak transcription	Colonic Mucosa	Colon
45	chr19:53110200-53115400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:53110400-53115600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr19:53110600-53115600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr19:53110600-53115600	Weak transcription	Dnd41	blood
49	chr19:53110600-53119400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr19:53111800-53115400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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