Variant report

Variant	rs74182637
Chromosome Location	chr19:19434066-19434067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19413906..19419021-chr19:19429875..19434162,7	K562	blood:
2	chr19:19431266..19434636-chr19:19448982..19451713,3	MCF-7	breast:
3	chr19:19431916..19433610-chr19:19433768..19435568,2	MCF-7	breast:
4	chr19:19431326..19434090-chr19:19651434..19653911,2	K562	blood:
5	chr19:19433505..19435144-chr19:19437527..19440100,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105705	Chromatin interaction
ENSG00000160161	Chromatin interaction
ENSG00000129933	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12462698	0.85[AMR][1000 genomes]
rs12463074	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12971734	0.85[AMR][1000 genomes]
rs2301785	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34351431	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34858588	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35156688	0.85[AMR][1000 genomes]
rs35824797	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36113815	0.85[AMR][1000 genomes]
rs4539728	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808201	0.85[AMR][1000 genomes]
rs4808943	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4808949	0.85[AMR][1000 genomes]
rs7257931	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs74181134	0.85[AMR][1000 genomes]
rs74181137	0.85[AMR][1000 genomes]
rs74182632	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74182635	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74182638	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74182639	0.97[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19432600-19445400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:19432800-19434200	Enhancers	Primary B cells from peripheral blood	blood
3	chr19:19432800-19434200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr19:19432800-19434400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr19:19432800-19434400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:19432800-19434400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr19:19432800-19434400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr19:19432800-19434400	Weak transcription	Brain Anterior Caudate	brain
9	chr19:19432800-19434400	Weak transcription	Gastric	stomach
10	chr19:19432800-19434400	Weak transcription	Psoas Muscle	Psoas
11	chr19:19432800-19434400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr19:19432800-19434400	Weak transcription	HMEC	breast
13	chr19:19432800-19434400	Weak transcription	HSMM	muscle
14	chr19:19432800-19434400	Weak transcription	NHEK	skin
15	chr19:19432800-19434400	Weak transcription	Osteobl	bone
16	chr19:19432800-19434600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr19:19432800-19434600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr19:19432800-19434600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:19432800-19434600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:19432800-19434600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:19432800-19434600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr19:19432800-19434600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:19432800-19434600	Enhancers	Fetal Brain Male	brain
24	chr19:19432800-19434600	Weak transcription	Ovary	ovary
25	chr19:19432800-19434800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr19:19432800-19434800	Weak transcription	Aorta	Aorta
27	chr19:19432800-19434800	Weak transcription	HSMMtube	muscle
28	chr19:19432800-19435000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr19:19432800-19435000	Weak transcription	NHDF-Ad	bronchial
30	chr19:19432800-19435400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr19:19432800-19436800	Weak transcription	Small Intestine	intestine
32	chr19:19432800-19438400	Weak transcription	A549	lung
33	chr19:19432800-19445400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr19:19432800-19447400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr19:19433000-19434400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:19433200-19434400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr19:19433200-19434400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:19433200-19434400	Enhancers	Pancreas	Pancrea
39	chr19:19433200-19434800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:19433200-19435400	Genic enhancers	Fetal Muscle Trunk	muscle
41	chr19:19433200-19435600	Genic enhancers	Thymus	Thymus
42	chr19:19433200-19439000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
43	chr19:19433200-19452800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:19433400-19434200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr19:19433400-19434200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr19:19433400-19434200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr19:19433400-19434200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:19433400-19434200	Weak transcription	Fetal Brain Female	brain
49	chr19:19433400-19434200	Weak transcription	Fetal Thymus	thymus
50	chr19:19433400-19434400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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