Variant report

Variant	rs10418816
Chromosome Location	chr19:42902612-42902613
allele	A/C
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42746379..42748753-chr19:42901046..42902799,2	K562	blood:
2	chr19:42900633..42903687-chr19:42904617..42908034,6	MCF-7	breast:
3	chr19:42900819..42903655-chr19:42904775..42907143,2	MCF-7	breast:
4	chr19:42901625..42903508-chr19:42904581..42908984,3	K562	blood:
5	chr19:42895668..42898012-chr19:42901990..42905454,3	K562	blood:
6	chr19:42900679..42903538-chr19:42909669..42912049,2	K562	blood:
7	chr19:42894017..42895736-chr19:42900827..42903287,2	MCF-7	breast:
8	chr19:42805304..42808319-chr19:42899510..42903078,3	K562	blood:
9	chr19:42901013..42903466-chr19:42908156..42911805,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000188368	Chromatin interaction
ENSG00000213904	Chromatin interaction
ENSG00000105723	Chromatin interaction
ENSG00000079435	Chromatin interaction
ENSG00000204957	Chromatin interaction
ENSG00000105427	Chromatin interaction
ENSG00000079462	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10401235	0.82[AFR][1000 genomes]
rs10409939	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10415999	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10423959	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10423978	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
7	nsv911788	chr19:42887492-42930652	Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv911789	chr19:42901430-42906725	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv911790	chr19:42901430-42908074	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv911791	chr19:42901430-42909478	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv911792	chr19:42901430-42929254	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv911793	chr19:42901430-42929502	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
13	nsv911794	chr19:42901430-42930652	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv911795	chr19:42901430-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription 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	15 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	chr19:42901800-42905400	Weak transcription	Aorta	Aorta
2	chr19:42902000-42903200	Enhancers	Primary B cells from peripheral blood	blood
3	chr19:42902200-42902800	Enhancers	Brain Germinal Matrix	brain
4	chr19:42902200-42903800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr19:42902200-42905000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:42902200-42905000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:42902200-42905000	Weak transcription	Fetal Muscle Leg	muscle
8	chr19:42902200-42905200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr19:42902200-42905200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:42902200-42905200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:42902200-42905200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:42902200-42905200	Weak transcription	Primary T cells from cord blood	blood
13	chr19:42902200-42905200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr19:42902200-42905200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:42902200-42905200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:42902200-42905200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:42902200-42905200	Weak transcription	Fetal Brain Male	brain
18	chr19:42902200-42905200	Weak transcription	Fetal Intestine Large	intestine
19	chr19:42902200-42905200	Weak transcription	Fetal Lung	lung
20	chr19:42902200-42905200	Weak transcription	Fetal Thymus	thymus
21	chr19:42902200-42905200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr19:42902200-42905200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr19:42902200-42905200	Weak transcription	Stomach Mucosa	stomach
24	chr19:42902200-42905400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:42902200-42905400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:42902200-42905400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:42902200-42905400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:42902200-42905400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr19:42902200-42905400	Weak transcription	Brain Substantia Nigra	brain
30	chr19:42902200-42905400	Weak transcription	Left Ventricle	heart
31	chr19:42902200-42905400	Weak transcription	Lung	lung
32	chr19:42902200-42905400	Weak transcription	Psoas Muscle	Psoas
33	chr19:42902200-42905400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr19:42902200-42905400	Weak transcription	Right Atrium	heart
35	chr19:42902200-42905400	Weak transcription	HSMM	muscle
36	chr19:42902200-42905400	Weak transcription	HSMMtube	muscle
37	chr19:42902200-42905600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr19:42902200-42905600	Weak transcription	Small Intestine	intestine
39	chr19:42902400-42903000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:42902400-42903000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:42902400-42903000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:42902400-42903200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:42902400-42903200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr19:42902400-42903200	Active TSS	Esophagus	oesophagus
45	chr19:42902400-42903400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:42902400-42903400	Weak transcription	Pancreas	Pancrea
47	chr19:42902400-42903400	Weak transcription	K562	blood
48	chr19:42902400-42903800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:42902400-42904200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr19:42902400-42904200	Weak transcription	Fetal Stomach	stomach

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