Variant report

Variant	rs8100600
Chromosome Location	chr19:52724027-52724028
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:52723998-52724261	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52696461..52698396-chr19:52721728..52724124,2	K562	blood:
2	chr19:52696334..52698371-chr19:52722454..52724052,2	MCF-7	breast:

Variant related genes	Relation type
PPP2R1A	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10403154	0.81[CHD][hapmap];0.84[TSI][hapmap];0.87[ASN][1000 genomes]
rs10403202	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10403283	0.98[EUR][1000 genomes]
rs10403311	0.91[EUR][1000 genomes]
rs10403464	0.98[EUR][1000 genomes]
rs10404236	0.82[CHB][hapmap];0.95[ASN][1000 genomes]
rs10407063	0.98[EUR][1000 genomes]
rs10407502	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10408119	0.98[EUR][1000 genomes]
rs10411211	0.98[EUR][1000 genomes]
rs10411335	0.81[ASW][hapmap]
rs10412110	0.98[EUR][1000 genomes]
rs10413012	0.98[EUR][1000 genomes]
rs10413435	0.90[ASW][hapmap];0.89[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs10414083	1.00[CHB][hapmap];0.98[EUR][1000 genomes]
rs10414197	1.00[CHB][hapmap];0.97[EUR][1000 genomes]
rs10414423	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10414536	0.98[EUR][1000 genomes]
rs10416785	0.98[EUR][1000 genomes]
rs10417033	0.98[EUR][1000 genomes]
rs10417253	0.89[CEU][hapmap];0.98[EUR][1000 genomes]
rs10417820	0.82[CHB][hapmap];0.95[CHD][hapmap];0.84[TSI][hapmap];0.95[ASN][1000 genomes]
rs10419304	0.82[CHB][hapmap];0.95[CHD][hapmap];0.84[TSI][hapmap];0.95[ASN][1000 genomes]
rs10420254	0.87[ASN][1000 genomes]
rs10420874	0.95[ASN][1000 genomes]
rs10421440	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10421589	0.91[EUR][1000 genomes]
rs10422483	0.89[CEU][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10422838	0.98[EUR][1000 genomes]
rs10423125	0.94[EUR][1000 genomes]
rs10423794	0.81[ASW][hapmap]
rs10425135	0.89[CHD][hapmap];0.84[TSI][hapmap]
rs10426002	0.98[EUR][1000 genomes]
rs10426786	0.89[CEU][hapmap];0.89[CHD][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs1056348	0.81[CHD][hapmap];0.84[TSI][hapmap];0.87[ASN][1000 genomes]
rs11879419	0.87[ASN][1000 genomes]
rs16983598	0.84[CHD][hapmap];0.83[TSI][hapmap]
rs16983603	0.89[CEU][hapmap];0.84[CHD][hapmap];0.94[TSI][hapmap];0.98[EUR][1000 genomes]
rs16983610	0.98[EUR][1000 genomes]
rs17835942	0.89[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs2016457	0.82[CHB][hapmap];0.95[ASN][1000 genomes]
rs2115074	0.98[EUR][1000 genomes]
rs2288409	0.82[CHB][hapmap];0.95[CHD][hapmap];0.84[TSI][hapmap];0.95[ASN][1000 genomes]
rs2288410	0.87[ASN][1000 genomes]
rs2303685	0.82[CHB][hapmap];0.95[CHD][hapmap];0.84[TSI][hapmap];0.95[ASN][1000 genomes]
rs3745097	0.82[CHB][hapmap];0.94[CHD][hapmap];0.84[TSI][hapmap];0.95[ASN][1000 genomes]
rs4458121	0.82[CHB][hapmap];0.95[ASN][1000 genomes]
rs55751302	0.98[EUR][1000 genomes]
rs55871532	0.98[EUR][1000 genomes]
rs57102373	0.98[EUR][1000 genomes]
rs60063830	0.98[EUR][1000 genomes]
rs6509628	0.89[CHD][hapmap]
rs7252174	0.95[ASN][1000 genomes]
rs7254030	0.95[ASN][1000 genomes]
rs7254774	0.95[ASN][1000 genomes]
rs7255058	0.93[EUR][1000 genomes]
rs7256125	0.84[CHD][hapmap]
rs7256216	0.89[CEU][hapmap];0.97[EUR][1000 genomes]
rs7256300	0.84[CHD][hapmap]
rs7256312	0.84[CHD][hapmap]
rs7256719	0.84[CHD][hapmap]
rs7259175	0.89[CHD][hapmap];0.84[TSI][hapmap]
rs73935053	0.88[EUR][1000 genomes]
rs755531	0.82[CHB][hapmap];0.95[CHD][hapmap];0.84[TSI][hapmap];0.95[ASN][1000 genomes]
rs8100048	0.94[EUR][1000 genomes]
rs8100500	1.00[CHB][hapmap];0.95[CHD][hapmap];0.96[ASN][1000 genomes]
rs8101990	0.90[ASW][hapmap];0.89[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs8103874	0.81[ASW][hapmap]
rs8105792	0.87[ASN][1000 genomes]
rs8106271	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs874421	1.00[EUR][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52694600-52732800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:52695400-52732200	Strong transcription	Fetal Lung	lung
3	chr19:52695400-52733200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr19:52696000-52732200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr19:52696000-52732400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:52696000-52733000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:52696200-52729200	Strong transcription	Fetal Intestine Large	intestine
8	chr19:52696200-52732400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr19:52696200-52732400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr19:52696200-52732400	Strong transcription	Primary B cells from cord blood	blood
11	chr19:52697600-52732400	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr19:52697600-52733200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:52697800-52732200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:52697800-52732400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr19:52697800-52732400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr19:52697800-52732600	Strong transcription	Primary T cells from cord blood	blood
17	chr19:52697800-52733000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:52698000-52730400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr19:52698000-52732200	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr19:52698000-52732200	Strong transcription	Dnd41	blood
21	chr19:52698200-52732000	Strong transcription	GM12878-XiMat	blood
22	chr19:52698200-52732400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr19:52698200-52732400	Strong transcription	HepG2	liver
24	chr19:52698200-52732600	Strong transcription	Fetal Brain Female	brain
25	chr19:52698400-52732400	Strong transcription	Fetal Thymus	thymus
26	chr19:52698600-52732000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr19:52698800-52732400	Strong transcription	Liver	Liver
28	chr19:52700800-52732200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr19:52702200-52731800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr19:52702200-52732200	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr19:52702600-52732200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr19:52703000-52731600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr19:52703000-52732600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr19:52703000-52734600	Strong transcription	Fetal Stomach	stomach
35	chr19:52703200-52731200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:52703200-52732200	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr19:52703200-52732400	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr19:52703200-52732400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr19:52703200-52732800	Strong transcription	Brain Germinal Matrix	brain
40	chr19:52703200-52733200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr19:52703200-52734000	Strong transcription	Lung	lung
42	chr19:52703400-52724200	Strong transcription	Gastric	stomach
43	chr19:52703400-52726400	Strong transcription	Fetal Intestine Small	intestine
44	chr19:52703600-52725600	Strong transcription	Esophagus	oesophagus
45	chr19:52703600-52733200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:52703800-52732200	Strong transcription	NHEK	skin
47	chr19:52703800-52733200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:52704000-52732200	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr19:52704000-52732400	Strong transcription	Brain Cingulate Gyrus	brain
50	chr19:52704000-52733200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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