Variant report

Variant	rs60666927
Chromosome Location	chr19:19300413-19300414
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19300325-19300993	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:19299900-19300576	K562	blood:	n/a	n/a
3	POLR2A	chr19:19300276-19300565	K562	blood:	n/a	n/a
4	POLR2A	chr19:19300022-19300469	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19296821..19298878-chr19:19300164..19303100,3	MCF-7	breast:
2	chr19:19294693..19300778-chr19:19301483..19306941,9	K562	blood:
3	chr19:19286456..19293705-chr19:19298673..19304955,13	K562	blood:
4	chr19:19299448..19305567-chr19:19306959..19319217,21	K562	blood:

No data

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56738402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57362874	1.00[AFR][1000 genomes]
rs59210450	0.85[AMR][1000 genomes]
rs60973674	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7256074	0.85[AMR][1000 genomes]
rs73922820	0.85[AMR][1000 genomes]
rs73922821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922822	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922823	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922826	0.85[AMR][1000 genomes]
rs73922828	0.85[AMR][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:120 , 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	chr19:19281800-19301200	Weak transcription	Stomach Mucosa	stomach
8	chr19:19282000-19301600	Weak transcription	Fetal Heart	heart
9	chr19:19283400-19300600	Weak transcription	Psoas Muscle	Psoas
10	chr19:19283400-19301600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:19283400-19302000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:19283400-19302200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:19283600-19301800	Weak transcription	HSMMtube	muscle
14	chr19:19284200-19302000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:19285600-19301800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr19:19286000-19301000	Weak transcription	HepG2	liver
17	chr19:19286000-19302000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr19:19288600-19300600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:19289800-19300800	Weak transcription	NHDF-Ad	bronchial
20	chr19:19291400-19300800	Strong transcription	Fetal Intestine Small	intestine
21	chr19:19291800-19301600	Weak transcription	A549	lung
22	chr19:19292800-19301600	Weak transcription	HMEC	breast
23	chr19:19293000-19300800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr19:19293400-19300800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:19293400-19300800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr19:19293600-19300800	Weak transcription	Hela-S3	cervix
27	chr19:19293600-19301000	Weak transcription	Osteobl	bone
28	chr19:19293600-19301800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr19:19293600-19301800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:19293600-19301800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:19293600-19302000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr19:19293600-19302000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr19:19293600-19302200	Weak transcription	Aorta	Aorta
34	chr19:19294400-19300800	Weak transcription	Primary T cells from cord blood	blood
35	chr19:19295800-19301800	Weak transcription	Fetal Kidney	kidney
36	chr19:19296400-19301600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr19:19297400-19300800	Weak transcription	Brain Substantia Nigra	brain
38	chr19:19297800-19301000	Weak transcription	Primary B cells from cord blood	blood
39	chr19:19297800-19301200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr19:19297800-19301200	Weak transcription	Fetal Intestine Large	intestine
41	chr19:19297800-19301200	Weak transcription	Fetal Thymus	thymus
42	chr19:19297800-19301600	Weak transcription	K562	blood
43	chr19:19298000-19300600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:19298000-19300600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:19298000-19300600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:19298000-19300600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr19:19298000-19300600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr19:19298000-19300800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr19:19298000-19301000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:19298000-19301000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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