Variant report

Variant	rs67482294
Chromosome Location	chr19:18405616-18405617
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18404019..18405840-chr19:18495699..18498623,2	K562	blood:
2	chr19:18403869..18405771-chr19:18450788..18452499,2	MCF-7	breast:
3	chr19:18302170..18305660-chr19:18401195..18405858,4	K562	blood:
4	chr19:18399894..18406849-chr19:18524216..18528146,7	K562	blood:
5	chr19:18404342..18405851-chr19:18528266..18530065,2	K562	blood:
6	chr19:18403785..18405926-chr21:38617800..38619973,2	K562	blood:
7	chr19:18389740..18392498-chr19:18405521..18407514,3	MCF-7	breast:
8	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
9	chr19:18399345..18407720-chr19:18430417..18436364,18	MCF-7	breast:
10	chr19:18319878..18322618-chr19:18403582..18405708,2	K562	blood:
11	chr19:18404019..18405946-chr19:18496995..18498623,2	K562	blood:
12	chr19:18351413..18353235-chr19:18403672..18406374,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000221167	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000130520	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000254858	Chromatin interaction
ENSG00000130517	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12462798	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12979985	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549142	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2384991	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2384992	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2384993	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41519246	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4378729	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats 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	136 gene(s)	inside rSNPs	diseases
3	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
5	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
6	nsv911269	chr19:18351674-18418044	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
7	nsv911270	chr19:18351674-18422364	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
8	nsv911271	chr19:18362940-18453124	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
9	esv1833305	chr19:18378219-18408222	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
10	nsv911272	chr19:18378219-18439383	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
11	nsv911273	chr19:18386798-18454825	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	134 gene(s)	inside rSNPs	diseases
12	esv3442194	chr19:18403852-18408550	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	esv3450606	chr19:18404552-18408250	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18402000-18405800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
2	chr19:18402000-18405800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr19:18403600-18411600	Weak transcription	HSMMtube	muscle
4	chr19:18403800-18405800	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr19:18403800-18406000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:18404000-18405800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr19:18404000-18405800	Enhancers	Spleen	Spleen
8	chr19:18404000-18406000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:18404000-18406200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:18404000-18406400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr19:18404200-18405800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr19:18404200-18405800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:18404200-18405800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:18404200-18406000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr19:18404200-18406000	Enhancers	Placenta	Placenta
16	chr19:18404200-18406200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr19:18404200-18406200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:18404200-18406200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr19:18404400-18405800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr19:18404400-18405800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:18404400-18405800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:18404400-18405800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:18404400-18405800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:18404400-18405800	Enhancers	GM12878-XiMat	blood
25	chr19:18404400-18406000	Enhancers	Primary B cells from peripheral blood	blood
26	chr19:18404400-18406000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr19:18404400-18406000	Enhancers	Stomach Smooth Muscle	stomach
28	chr19:18404400-18406200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr19:18404400-18406200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr19:18404400-18406400	Enhancers	Primary T cells fromperipheralblood	blood
31	chr19:18404400-18407600	Weak transcription	Stomach Mucosa	stomach
32	chr19:18404400-18408200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:18404400-18409600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:18404400-18411600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:18404400-18411600	Weak transcription	Left Ventricle	heart
36	chr19:18404400-18411600	Weak transcription	Right Ventricle	heart
37	chr19:18404400-18411800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr19:18404400-18411800	Weak transcription	HSMM	muscle
39	chr19:18404400-18411800	Weak transcription	HUVEC	blood vessel
40	chr19:18404400-18414200	Weak transcription	Fetal Lung	lung
41	chr19:18404600-18406000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr19:18404600-18406200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr19:18404600-18409200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr19:18404600-18409400	Weak transcription	NHLF	lung
45	chr19:18404600-18411600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:18404600-18411600	Weak transcription	Fetal Muscle Leg	muscle
47	chr19:18404600-18411600	Weak transcription	NHDF-Ad	bronchial
48	chr19:18404600-18411800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:18404600-18411800	Weak transcription	Fetal Heart	heart
50	chr19:18404600-18411800	Weak transcription	Rectal Mucosa Donor 29	rectum

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