Variant report

Variant	rs73935053
Chromosome Location	chr19:52734291-52734292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52692325..52695090-chr19:52733176..52735417,3	MCF-7	breast:
2	chr19:52714640..52717140-chr19:52734016..52736347,2	K562	blood:
3	chr19:52733004..52735653-chr19:52772074..52774471,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105568	Chromatin interaction
ENSG00000196214	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10402209	0.98[ASN][1000 genomes]
rs10402638	0.98[ASN][1000 genomes]
rs10403202	0.88[EUR][1000 genomes]
rs10403283	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10403311	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10403464	0.89[EUR][1000 genomes]
rs10403806	0.98[ASN][1000 genomes]
rs10404437	0.98[ASN][1000 genomes]
rs10407063	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10407502	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10408119	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10411211	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412110	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412196	0.94[ASN][1000 genomes]
rs10413012	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10413435	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10414083	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10414197	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10414423	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10414536	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10414852	0.98[ASN][1000 genomes]
rs10416785	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10417033	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10417253	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10418666	0.85[ASN][1000 genomes]
rs10420207	0.87[ASN][1000 genomes]
rs10420560	0.98[ASN][1000 genomes]
rs10421440	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10421589	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10422483	0.88[EUR][1000 genomes]
rs10422838	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10423125	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10425135	0.98[ASN][1000 genomes]
rs10426002	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10426786	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16983598	0.98[ASN][1000 genomes]
rs16983601	0.98[ASN][1000 genomes]
rs16983603	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16983610	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17835942	0.88[EUR][1000 genomes]
rs2115074	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28444225	0.96[ASN][1000 genomes]
rs28563055	0.96[ASN][1000 genomes]
rs55751302	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55871532	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57102373	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60063830	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509628	0.98[ASN][1000 genomes]
rs7249460	1.00[ASN][1000 genomes]
rs7255058	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7255677	0.84[ASN][1000 genomes]
rs7255737	0.98[ASN][1000 genomes]
rs7256125	0.96[ASN][1000 genomes]
rs7256216	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7256300	0.96[ASN][1000 genomes]
rs7256312	0.96[ASN][1000 genomes]
rs7256719	0.96[ASN][1000 genomes]
rs7259175	0.94[ASN][1000 genomes]
rs73935052	0.98[ASN][1000 genomes]
rs8100048	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8100600	0.88[EUR][1000 genomes]
rs8101990	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8105432	0.98[ASN][1000 genomes]
rs8106271	0.88[EUR][1000 genomes]
rs8106544	0.91[ASN][1000 genomes]
rs8108636	0.98[ASN][1000 genomes]
rs8109061	0.82[ASN][1000 genomes]
rs8109512	0.98[ASN][1000 genomes]
rs8110857	0.98[ASN][1000 genomes]
rs8110881	0.98[ASN][1000 genomes]
rs874421	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv962989	chr19:52732337-52742183	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52703000-52734600	Strong transcription	Fetal Stomach	stomach
2	chr19:52705000-52735200	Strong transcription	Stomach Smooth Muscle	stomach
3	chr19:52719000-52735400	ZNF genes & repeats	A549	lung
4	chr19:52723600-52735200	Strong transcription	Fetal Muscle Leg	muscle
5	chr19:52727600-52737800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:52730200-52734400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:52730200-52737800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr19:52730800-52741000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:52731000-52736800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:52731000-52736800	Weak transcription	Stomach Mucosa	stomach
11	chr19:52731200-52734400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:52731600-52734600	Weak transcription	Aorta	Aorta
13	chr19:52731600-52736400	Weak transcription	Fetal Heart	heart
14	chr19:52731600-52738000	Weak transcription	Fetal Brain Male	brain
15	chr19:52731600-52741000	Weak transcription	Colon Smooth Muscle	Colon
16	chr19:52731800-52735400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr19:52731800-52736600	Weak transcription	HUVEC	blood vessel
18	chr19:52732000-52734400	Weak transcription	NHDF-Ad	bronchial
19	chr19:52732000-52736000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr19:52732000-52736000	Weak transcription	Psoas Muscle	Psoas
21	chr19:52732000-52736600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr19:52732000-52740600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr19:52732000-52740800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:52732200-52734400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:52732200-52734400	Weak transcription	Brain Hippocampus Middle	brain
26	chr19:52732200-52734600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:52732200-52735600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr19:52732200-52736000	Weak transcription	Ovary	ovary
29	chr19:52732200-52736000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr19:52732200-52736200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr19:52732200-52736400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:52732200-52741000	Weak transcription	Dnd41	blood
33	chr19:52732200-52741200	Weak transcription	Fetal Lung	lung
34	chr19:52732400-52734400	Weak transcription	Brain Substantia Nigra	brain
35	chr19:52732400-52734600	Weak transcription	Primary B cells from cord blood	blood
36	chr19:52732400-52735000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr19:52732400-52735200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr19:52732400-52735400	Weak transcription	Liver	Liver
39	chr19:52732400-52735400	Weak transcription	HSMMtube	muscle
40	chr19:52732400-52735400	Weak transcription	NHLF	lung
41	chr19:52732400-52735800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:52732400-52735800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr19:52732400-52735800	Weak transcription	Left Ventricle	heart
44	chr19:52732400-52736000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:52732400-52736000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr19:52732400-52736400	Weak transcription	Adipose Nuclei	Adipose
47	chr19:52732400-52737800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:52732400-52737800	Weak transcription	HepG2	liver
49	chr19:52732400-52740200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr19:52732400-52740600	Weak transcription	Brain Angular Gyrus	brain

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