Variant report

Variant	rs35342977
Chromosome Location	chr19:19282522-19282523
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19282363-19283579	K562	blood:	n/a	n/a
2	JUN	chr19:19282160-19283412	K562	blood:	n/a	n/a
3	POLR2A	chr19:19282281-19283398	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19254048..19257177-chr19:19281420..19283386,3	K562	blood:
2	chr19:19280644..19282541-chr19:19431552..19433735,2	MCF-7	breast:
3	chr19:19171096..19173278-chr19:19281615..19284130,2	K562	blood:
4	chr19:19281578..19283666-chr19:19326802..19329714,2	K562	blood:
5	chr19:19280114..19282646-chr19:19429552..19431405,2	MCF-7	breast:
6	chr19:19256287..19258012-chr19:19281605..19284547,2	MCF-7	breast:
7	chr19:19279506..19282646-chr19:19302669..19304636,3	MCF-7	breast:
8	chr19:19276770..19279555-chr19:19281152..19284239,3	K562	blood:
9	chr19:19281703..19283642-chr19:19290423..19292438,2	MCF-7	breast:

No data

Variant related genes	Relation type
MEF2B	TF binding region
ENSG00000064489	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000213999	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000129933	Chromatin interaction
ENSG00000105705	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1005980	0.92[ASN][1000 genomes]
rs10417796	0.84[EUR][1000 genomes]
rs10418053	0.84[EUR][1000 genomes]
rs1050544	0.85[EUR][1000 genomes]
rs10854008	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10854009	0.83[EUR][1000 genomes]
rs10854012	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11669408	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11669860	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11669861	0.88[EUR][1000 genomes]
rs12609573	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12972894	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12974672	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12975096	0.81[EUR][1000 genomes]
rs12975253	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12975290	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12980269	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12980955	0.85[EUR][1000 genomes]
rs12981160	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1858846	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238668	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2239369	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2239370	0.83[EUR][1000 genomes]
rs2283623	0.85[EUR][1000 genomes]
rs2314035	0.84[EUR][1000 genomes]
rs3787040	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4808185	0.82[EUR][1000 genomes]
rs539	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62135499	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71332145	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7250650	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7256811	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7260127	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72997174	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs741706	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759999	0.80[EUR][1000 genomes]
rs8101388	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19249600-19282600	Weak transcription	NHLF	lung
2	chr19:19259000-19290200	Weak transcription	Colon Smooth Muscle	Colon
3	chr19:19268200-19282600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr19:19268800-19287200	Weak transcription	Dnd41	blood
5	chr19:19277400-19300600	Weak transcription	Small Intestine	intestine
6	chr19:19280800-19287000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:19280800-19301600	Weak transcription	NHEK	skin
8	chr19:19281000-19283400	Enhancers	Placenta	Placenta
9	chr19:19281000-19287000	Weak transcription	Primary T cells from cord blood	blood
10	chr19:19281200-19282600	Weak transcription	Psoas Muscle	Psoas
11	chr19:19281200-19282800	Weak transcription	Liver	Liver
12	chr19:19281200-19282800	Weak transcription	HSMM	muscle
13	chr19:19281200-19283000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:19281200-19283800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:19281200-19283800	Enhancers	GM12878-XiMat	blood
16	chr19:19281200-19287400	Weak transcription	Aorta	Aorta
17	chr19:19281400-19282600	Weak transcription	HSMMtube	muscle
18	chr19:19281400-19282800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr19:19281400-19282800	Enhancers	K562	blood
20	chr19:19281400-19283000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr19:19281400-19283000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:19281400-19283400	Enhancers	Adipose Nuclei	Adipose
23	chr19:19281400-19285600	Weak transcription	Right Ventricle	heart
24	chr19:19281400-19286600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr19:19281400-19287000	Weak transcription	Gastric	stomach
26	chr19:19281400-19287000	Weak transcription	Lung	lung
27	chr19:19281400-19287000	Weak transcription	Thymus	Thymus
28	chr19:19281400-19287400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr19:19281400-19287400	Weak transcription	Esophagus	oesophagus
30	chr19:19281400-19287400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr19:19281400-19290200	Weak transcription	Brain Substantia Nigra	brain
32	chr19:19281400-19292200	Weak transcription	HMEC	breast
33	chr19:19281400-19300800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr19:19281600-19282600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:19281600-19282600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr19:19281600-19282600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr19:19281600-19285800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr19:19281600-19286400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:19281600-19286600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:19281600-19287200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr19:19281600-19287200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr19:19281600-19287200	Weak transcription	Fetal Intestine Large	intestine
43	chr19:19281600-19287400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:19281600-19289000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr19:19281600-19290400	Weak transcription	Fetal Lung	lung
46	chr19:19281600-19290600	Weak transcription	Fetal Brain Female	brain
47	chr19:19281600-19290800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr19:19281600-19290800	Weak transcription	Brain Angular Gyrus	brain
49	chr19:19281600-19292000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:19281600-19293000	Weak transcription	H9 Cell Line	embryonic stem cell

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