Variant report

Variant	rs73923175
Chromosome Location	chr19:18986645-18986646
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: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	chr19:18986591..18988341-chr19:19043846..19046489,2	K562	blood:
2	chr19:18981107..18982659-chr19:18985530..18987661,2	MCF-7	breast:
3	chr19:18977955..18980267-chr19:18984796..18987025,2	MCF-7	breast:
4	chr19:18986436..18988009-chr19:18990126..18992850,2	K562	blood:
5	chr19:18984024..18987729-chr19:18988322..18991283,4	K562	blood:
6	chr19:18985117..18986798-chr19:19004374..19006931,2	MCF-7	breast:
7	chr19:18552019..18554406-chr19:18986208..18987984,2	MCF-7	breast:
8	chr19:18985509..18988367-chr19:18988371..18990146,2	MCF-7	breast:
9	chr19:18977856..18980338-chr19:18985315..18988284,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000051128	Chromatin interaction
ENSG00000268199	Chromatin interaction
ENSG00000269694	Chromatin interaction
ENSG00000130283	Chromatin interaction
ENSG00000268193	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7251329	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7255475	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv470132	chr19:18964442-19054720	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv828473	chr19:18975130-18994875	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18967400-18987600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr19:18974600-18987600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:18978000-18987200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:18979000-18987400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr19:18979000-18987800	Weak transcription	A549	lung
6	chr19:18979200-18987400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr19:18979200-18987600	Weak transcription	Hela-S3	cervix
8	chr19:18979200-18987800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:18979400-18987000	Weak transcription	NHDF-Ad	bronchial
10	chr19:18979400-18989600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr19:18979600-18987200	Weak transcription	Aorta	Aorta
12	chr19:18979600-18987600	Weak transcription	HMEC	breast
13	chr19:18979600-18987800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr19:18979600-18991800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr19:18980000-18987800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:18980400-19004000	Weak transcription	Psoas Muscle	Psoas
17	chr19:18980400-19004200	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr19:18980800-18990400	Weak transcription	Pancreas	Pancrea
19	chr19:18981000-18989200	Weak transcription	NHLF	lung
20	chr19:18981400-18998000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:18981600-18987600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:18981800-18987400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:18981800-18987600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr19:18981800-18987600	Strong transcription	Brain Germinal Matrix	brain
25	chr19:18981800-18987800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:18981800-18989400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:18981800-18997800	Weak transcription	Ovary	ovary
28	chr19:18981800-19005800	Weak transcription	Right Atrium	heart
29	chr19:18982000-18991400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr19:18982000-19002200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr19:18982400-18995200	Strong transcription	Brain Anterior Caudate	brain
32	chr19:18982600-18987000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:18982600-18987400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr19:18982600-19000800	Weak transcription	Colon Smooth Muscle	Colon
35	chr19:18982800-18987000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr19:18982800-18987400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:18982800-18987400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr19:18982800-18989000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:18983200-18987400	Weak transcription	Fetal Intestine Small	intestine
40	chr19:18983400-18998200	Strong transcription	Brain Cingulate Gyrus	brain
41	chr19:18983600-18987600	Strong transcription	Fetal Brain Female	brain
42	chr19:18983800-18987800	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr19:18984000-18987600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr19:18984000-18987800	Strong transcription	Brain Substantia Nigra	brain
45	chr19:18984000-18995600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr19:18984000-19004200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:18984400-18987600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:18984600-18995000	Strong transcription	Brain Hippocampus Middle	brain
49	chr19:18984800-18987400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr19:18984800-18987600	Strong transcription	Fetal Muscle Leg	muscle

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