Variant report

Variant	rs62110185
Chromosome Location	chr19:38269430-38269431
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr19:38269429-38270828	H1-neurons	neurons:	n/a	chr19:38270079-38270089 chr19:38269734-38269744
2	MYC	chr19:38269388-38269468	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:38269182-38270883	HepG2	liver:	n/a	n/a
4	HCFC1	chr19:38269236-38271180	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr19:38269282-38269612	IMR90	lung:	n/a	n/a
6	TBP	chr19:38269284-38270687	Hela-S3	cervix:	n/a	n/a
7	MAX	chr19:38269235-38270817	HepG2	liver:	n/a	n/a
8	MYC	chr19:38269256-38269591	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr19:38269265-38270600	MCF10A-Er-Src	breast:	n/a	n/a
10	MAX	chr19:38269315-38270687	K562	blood:	n/a	n/a
11	MAX	chr19:38269226-38270930	A549	lung:	n/a	n/a
12	MXI1	chr19:38269360-38270667	HepG2	liver:	n/a	n/a
13	SIX5	chr19:38269120-38270827	A549	lung:	n/a	n/a
14	POLR2A	chr19:38269379-38270786	GM12878	blood:	n/a	n/a
15	STAT3	chr19:38269355-38269458	MCF10A-Er-Src	breast:	n/a	n/a
16	KAP1	chr19:38269261-38270668	HEK293	kidney:	n/a	n/a
17	MXI1	chr19:38269054-38271214	SK-N-SH	brain:	n/a	n/a
18	MXI1	chr19:38269418-38270724	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr19:38269289-38269609	HepG2	liver:	n/a	n/a
20	CEBPB	chr19:38269262-38269624	MCF-7	breast:	n/a	n/a
21	MAX	chr19:38269323-38270735	Hela-S3	cervix:	n/a	n/a
22	GABPA	chr19:38269288-38270692	A549	lung:	n/a	chr19:38269969-38269978
23	CEBPB	chr19:38269298-38269589	K562	blood:	n/a	n/a
24	MXI1	chr19:38269191-38270922	IMR90	lung:	n/a	n/a
25	CEBPB	chr19:38269349-38269492	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38085182..38087082-chr19:38268049..38270346,2	K562	blood:
2	chr19:38261551..38263090-chr19:38267286..38270188,2	K562	blood:
3	chr19:37956743..37958791-chr19:38268721..38270290,2	K562	blood:
4	chr19:38084603..38087452-chr19:38269351..38271925,3	MCF-7	breast:
5	chr19:38259097..38263090-chr19:38267286..38270188,4	K562	blood:
6	chr19:37995858..37997705-chr19:38268751..38270937,2	MCF-7	breast:
7	chr13:111365926..111366706-chr19:38269408..38269951,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000267422	TF binding region
ENSG00000134905	Chromatin interaction
ENSG00000266916	Chromatin interaction
ENSG00000180479	Chromatin interaction
ENSG00000171817	Chromatin interaction
ENSG00000171827	Chromatin interaction
ENSG00000196437	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10153500	0.90[EUR][1000 genomes]
rs10424047	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11878261	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11879149	0.85[EUR][1000 genomes]
rs11880056	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11880604	0.85[EUR][1000 genomes]
rs11883255	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16975881	0.84[EUR][1000 genomes]
rs16975930	0.84[EUR][1000 genomes]
rs34206817	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34743484	0.82[EUR][1000 genomes]
rs56075341	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56264690	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56281742	0.93[EUR][1000 genomes]
rs57504517	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57725815	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57867853	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59966837	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60686304	0.93[EUR][1000 genomes]
rs62108260	0.93[EUR][1000 genomes]
rs62108262	0.85[EUR][1000 genomes]
rs62108289	0.93[EUR][1000 genomes]
rs62108290	0.93[EUR][1000 genomes]
rs62108292	0.93[EUR][1000 genomes]
rs62108293	0.93[EUR][1000 genomes]
rs62108297	0.93[EUR][1000 genomes]
rs62108348	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62108350	0.95[ASN][1000 genomes]
rs62108354	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62110178	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110183	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110187	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110188	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110190	0.84[EUR][1000 genomes]
rs62110192	0.84[EUR][1000 genomes]
rs62110194	0.84[EUR][1000 genomes]
rs62110195	0.84[EUR][1000 genomes]
rs62110222	0.84[EUR][1000 genomes]
rs62111488	0.93[EUR][1000 genomes]
rs62111490	0.93[EUR][1000 genomes]
rs7245965	0.84[EUR][1000 genomes]
rs7245981	0.93[EUR][1000 genomes]
rs7246147	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7247175	0.93[EUR][1000 genomes]
rs7247345	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7251502	0.84[EUR][1000 genomes]
rs7258992	0.93[EUR][1000 genomes]
rs7259029	0.93[EUR][1000 genomes]
rs7259717	0.93[EUR][1000 genomes]
rs73932929	0.93[EUR][1000 genomes]
rs73932955	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8100469	0.84[EUR][1000 genomes]
rs8101476	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8101991	0.93[EUR][1000 genomes]
rs8102189	0.93[EUR][1000 genomes]
rs8104124	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104747	0.93[EUR][1000 genomes]
rs8108261	0.93[EUR][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	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38265200-38269600	Weak transcription	Ovary	ovary
2	chr19:38268800-38269600	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr19:38269000-38269600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr19:38269000-38269600	Enhancers	Spleen	Spleen
5	chr19:38269000-38270000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:38269000-38270000	Flanking Active TSS	Dnd41	blood
7	chr19:38269000-38270800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:38269200-38269600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:38269200-38269600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:38269200-38269600	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr19:38269200-38269600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:38269200-38269600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr19:38269200-38269600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr19:38269200-38269600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:38269200-38269600	Flanking Active TSS	Colon Smooth Muscle	Colon
16	chr19:38269200-38269600	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr19:38269200-38269600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr19:38269200-38269600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr19:38269200-38269600	Flanking Active TSS	Fetal Brain Male	brain
20	chr19:38269200-38269600	Flanking Active TSS	Fetal Intestine Large	intestine
21	chr19:38269200-38269600	Flanking Active TSS	Fetal Kidney	kidney
22	chr19:38269200-38269600	Flanking Active TSS	Fetal Stomach	stomach
23	chr19:38269200-38269600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr19:38269200-38269600	Flanking Active TSS	Thymus	Thymus
25	chr19:38269200-38269600	Flanking Active TSS	Hela-S3	cervix
26	chr19:38269200-38269600	Flanking Active TSS	NHDF-Ad	bronchial
27	chr19:38269200-38269600	Flanking Active TSS	NHEK	skin
28	chr19:38269200-38269800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr19:38269200-38269800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr19:38269200-38269800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:38269200-38269800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:38269200-38269800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:38269200-38269800	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr19:38269200-38269800	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr19:38269200-38269800	Flanking Active TSS	Fetal Brain Female	brain
36	chr19:38269200-38270000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:38269200-38270000	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr19:38269200-38270000	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr19:38269200-38270000	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr19:38269200-38270000	Flanking Active TSS	Liver	Liver
41	chr19:38269200-38270000	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr19:38269200-38270000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:38269200-38270000	Flanking Active TSS	Fetal Lung	lung
44	chr19:38269200-38270000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr19:38269200-38270200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr19:38269200-38270600	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr19:38269200-38270800	Active TSS	Brain Cingulate Gyrus	brain
48	chr19:38269200-38270800	Active TSS	Fetal Intestine Small	intestine
49	chr19:38269200-38270800	Active TSS	HSMM	muscle
50	chr19:38269200-38271000	Active TSS	HUES64 Cell Line	embryonic stem cell

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