Variant report

Variant	rs7247175
Chromosome Location	chr19:38086898-38086899
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38085961..38087829-chr19:38145172..38147580,2	K562	blood:
2	chr19:38084603..38087452-chr19:38269351..38271925,3	MCF-7	breast:
3	chr19:38085182..38087082-chr19:38268049..38270346,2	K562	blood:

Variant related genes	Relation type
ENSG00000267422	Chromatin interaction
ENSG00000120784	Chromatin interaction
ENSG00000189144	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10153500	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10424047	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11878261	0.81[EUR][1000 genomes]
rs11879149	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11880056	1.00[EUR][1000 genomes]
rs11880604	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11883255	1.00[EUR][1000 genomes]
rs34206817	1.00[EUR][1000 genomes]
rs34743484	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3810359	0.95[ASN][1000 genomes]
rs45505797	0.83[EUR][1000 genomes]
rs56075341	1.00[EUR][1000 genomes]
rs56264690	1.00[EUR][1000 genomes]
rs56281742	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57504517	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57725815	0.93[EUR][1000 genomes]
rs57867853	1.00[EUR][1000 genomes]
rs59966837	1.00[EUR][1000 genomes]
rs60686304	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62108260	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62108262	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62108264	0.95[ASN][1000 genomes]
rs62108289	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62108290	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62108292	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62108293	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62108297	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62108302	0.85[ASN][1000 genomes]
rs62108344	0.82[AFR][1000 genomes]
rs62108348	1.00[EUR][1000 genomes]
rs62108354	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62110178	1.00[EUR][1000 genomes]
rs62110183	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs62110185	0.93[EUR][1000 genomes]
rs62110186	0.93[EUR][1000 genomes]
rs62110187	0.84[EUR][1000 genomes]
rs62110188	0.81[EUR][1000 genomes]
rs62111488	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62111490	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7245981	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258992	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7259029	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7259717	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73930999	0.83[EUR][1000 genomes]
rs73932929	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73932955	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs8101991	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8102189	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8104124	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8104747	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8108261	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[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	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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38084600-38087000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:38084800-38087000	Active TSS	Right Ventricle	heart
3	chr19:38084800-38087200	Active TSS	Ovary	ovary
4	chr19:38084800-38087400	Active TSS	Right Atrium	heart
5	chr19:38085000-38087400	Active TSS	Brain Cingulate Gyrus	brain
6	chr19:38085000-38087400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr19:38085000-38087400	Active TSS	Stomach Smooth Muscle	stomach
8	chr19:38085000-38087600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr19:38085000-38087800	Active TSS	Brain Anterior Caudate	brain
10	chr19:38085200-38087200	Active TSS	Duodenum Mucosa	Duodenum
11	chr19:38085200-38087200	Active TSS	GM12878-XiMat	blood
12	chr19:38085200-38087200	Active TSS	NHDF-Ad	bronchial
13	chr19:38085800-38087000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:38086000-38087400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr19:38086200-38087000	Active TSS	Brain Germinal Matrix	brain
16	chr19:38086400-38087200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:38086400-38087200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr19:38086400-38087200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr19:38086400-38093400	Weak transcription	Gastric	stomach
20	chr19:38086400-38095600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr19:38086400-38095600	Weak transcription	Stomach Mucosa	stomach
22	chr19:38086600-38087000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr19:38086600-38087000	Active TSS	Brain Angular Gyrus	brain
24	chr19:38086600-38087000	Enhancers	Fetal Brain Male	brain
25	chr19:38086600-38087000	Active TSS	Fetal Brain Female	brain
26	chr19:38086600-38087200	Enhancers	Primary B cells from peripheral blood	blood
27	chr19:38086600-38087200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:38086600-38087200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr19:38086600-38087200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr19:38086600-38087200	Enhancers	Hela-S3	cervix
31	chr19:38086600-38087400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr19:38086600-38087400	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr19:38086600-38088400	Weak transcription	Lung	lung
34	chr19:38086600-38089000	Weak transcription	Left Ventricle	heart
35	chr19:38086600-38089400	Weak transcription	Thymus	Thymus
36	chr19:38086600-38089600	Weak transcription	Pancreas	Pancrea
37	chr19:38086600-38089800	Weak transcription	Osteobl	bone
38	chr19:38086600-38090400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr19:38086600-38090800	Weak transcription	Psoas Muscle	Psoas
40	chr19:38086600-38091800	Weak transcription	Esophagus	oesophagus
41	chr19:38086600-38092000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr19:38086600-38092200	Weak transcription	Small Intestine	intestine
43	chr19:38086600-38092800	Weak transcription	Fetal Muscle Leg	muscle
44	chr19:38086600-38098200	Weak transcription	Colonic Mucosa	Colon
45	chr19:38086600-38098800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:38086600-38099400	Weak transcription	Fetal Stomach	stomach
47	chr19:38086600-38103200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:38086800-38087000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr19:38086800-38087000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr19:38086800-38087000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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