Variant report

Variant	rs73537459
Chromosome Location	chr19:19299937-19299938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19299937-19300369	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr19:19299900-19300576	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19294693..19300778-chr19:19301483..19306941,9	K562	blood:
2	chr19:19286456..19293705-chr19:19298673..19304955,13	K562	blood:
3	chr19:19299448..19305567-chr19:19306959..19319217,21	K562	blood:

Variant related genes	Relation type
RFXANK	TF binding region
MEF2BNB	TF binding region
ENSG00000064489	Chromatin interaction
ENSG00000184162	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000213999	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6511025	0.86[AFR][1000 genomes]
rs73531218	1.00[AMR][1000 genomes]
rs73539433	0.86[AFR][1000 genomes]
rs73539469	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	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
3	nsv933613	chr19:19291456-19312244	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv961283	chr19:19293486-19312277	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19277400-19300600	Weak transcription	Small Intestine	intestine
2	chr19:19280800-19301600	Weak transcription	NHEK	skin
3	chr19:19281400-19300800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr19:19281600-19300600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:19281600-19302000	Weak transcription	NH-A	brain
6	chr19:19281600-19302200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:19281800-19300000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:19281800-19301200	Weak transcription	Stomach Mucosa	stomach
9	chr19:19282000-19301600	Weak transcription	Fetal Heart	heart
10	chr19:19283400-19300600	Weak transcription	Psoas Muscle	Psoas
11	chr19:19283400-19301600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:19283400-19302000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:19283400-19302200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:19283600-19301800	Weak transcription	HSMMtube	muscle
15	chr19:19284200-19302000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:19285600-19301800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr19:19286000-19301000	Weak transcription	HepG2	liver
18	chr19:19286000-19302000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:19288600-19300600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:19289800-19300800	Weak transcription	NHDF-Ad	bronchial
21	chr19:19291400-19300800	Strong transcription	Fetal Intestine Small	intestine
22	chr19:19291800-19300000	Weak transcription	Colon Smooth Muscle	Colon
23	chr19:19291800-19301600	Weak transcription	A549	lung
24	chr19:19292800-19301600	Weak transcription	HMEC	breast
25	chr19:19293000-19300800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr19:19293400-19300800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:19293400-19300800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr19:19293600-19300000	Weak transcription	Brain Angular Gyrus	brain
29	chr19:19293600-19300200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr19:19293600-19300800	Weak transcription	Hela-S3	cervix
31	chr19:19293600-19301000	Weak transcription	Osteobl	bone
32	chr19:19293600-19301800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr19:19293600-19301800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:19293600-19301800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr19:19293600-19302000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr19:19293600-19302000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr19:19293600-19302200	Weak transcription	Aorta	Aorta
38	chr19:19293800-19300000	Weak transcription	Liver	Liver
39	chr19:19293800-19300000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr19:19294400-19300800	Weak transcription	Primary T cells from cord blood	blood
41	chr19:19295400-19300000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:19295800-19301800	Weak transcription	Fetal Kidney	kidney
43	chr19:19296200-19300000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr19:19296400-19300000	Weak transcription	Left Ventricle	heart
45	chr19:19296400-19301600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr19:19296600-19300000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr19:19297200-19300200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr19:19297400-19300800	Weak transcription	Brain Substantia Nigra	brain
49	chr19:19297800-19300000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr19:19297800-19300000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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