Variant report

Variant	rs67324798
Chromosome Location	chr15:75334972-75334973
allele	C/T
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	chr15:75334181-75340414	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:75334930-75337701	GM12892	blood:	n/a	n/a
3	RAD21	chr15:75334965-75336320	HCT-116	colon:	n/a	chr15:75335345-75335355 chr15:75335345-75335357 chr15:75335340-75335359 chr15:75335704-75335717 chr15:75335399-75335412 chr15:75336229-75336242 chr15:75336046-75336060 chr15:75335153-75335162
4	CTCF	chr15:75334962-75335710	SK-N-SH	brain:	n/a	chr15:75335040-75335048 chr15:75335400-75335413 chr15:75335406-75335419 chr15:75335341-75335362 chr15:75335342-75335355 chr15:75335339-75335357
5	POLR2A	chr15:75333297-75341736	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:75334961-75336349	GM12891	blood:	n/a	n/a
7	STAT5A	chr15:75334918-75337041	GM12878	blood:	n/a	chr15:75335744-75335752 chr15:75336065-75336077 chr15:75335565-75335576 chr15:75335442-75335449 chr15:75336978-75336990 chr15:75335533-75335542
8	CTCF	chr15:75334968-75335777	HCT-116	colon:	n/a	chr15:75335040-75335048 chr15:75335400-75335413 chr15:75335406-75335419 chr15:75335341-75335362 chr15:75335342-75335355 chr15:75335339-75335357
9	PML	chr15:75334875-75336710	GM12878	blood:	n/a	chr15:75335532-75335541 chr15:75335280-75335288
10	NFATC1	chr15:75334939-75336496	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:75334949-75337205	GM12892	blood:	n/a	n/a
12	CEBPB	chr15:75334860-75336479	GM12878	blood:	n/a	n/a
13	NFIC	chr15:75334965-75336697	GM12878	blood:	n/a	n/a
14	MTA3	chr15:75334888-75340698	GM12878	blood:	n/a	n/a
15	STAT5A	chr15:75334954-75336633	GM12878	blood:	n/a	chr15:75335744-75335752 chr15:75336065-75336077 chr15:75335565-75335576 chr15:75335442-75335449 chr15:75335533-75335542
16	SPI1	chr15:75334957-75336853	GM12878	blood:	n/a	chr15:75335565-75335574
17	POLR2A	chr15:75333262-75344076	GM12878	blood:	n/a	n/a
18	BCLAF1	chr15:75334917-75336429	GM12878	blood:	n/a	chr15:75335534-75335543 chr15:75335565-75335574
19	RAD21	chr15:75334950-75336419	HCT-116	colon:	n/a	chr15:75335345-75335355 chr15:75335345-75335357 chr15:75335340-75335359 chr15:75335704-75335717 chr15:75335399-75335412 chr15:75336229-75336242 chr15:75336046-75336060 chr15:75335153-75335162

No.	Distal block	Cell Line	Cell type
1	chr15:75333855..75341122-chr15:75492635..75495814,9	MCF-7	breast:
2	chr15:75318584..75321988-chr15:75334747..75339188,4	K562	blood:
3	chr15:75334824..75335770-chr15:75494095..75494948,2	Hela-S3	cervix:
4	chr15:75314438..75320960-chr15:75334023..75339188,6	K562	blood:
5	chr15:75334933..75335774-chr15:75493965..75494927,3	MCF-7	breast:
6	chr15:75331603..75340227-chr15:75492938..75499942,15	K562	blood:
7	chr15:75334055..75342899-chr15:75492444..75498798,20	K562	blood:
8	chr15:75332512..75342228-chr15:75491817..75496419,22	MCF-7	breast:

Variant related genes	Relation type
PPCDC	TF binding region
ENSG00000260483	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000138621	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12185077	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12185078	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12185102	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12324912	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12591119	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12708514	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12898259	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12901243	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12903201	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12910644	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13056	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1867146	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1867150	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2083731	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2120019	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2120020	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2289582	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2304903	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2415253	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2415254	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2415255	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34237279	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34655806	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs34713999	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34835684	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34913788	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35577967	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35736167	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35911108	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3850093	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5020842	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs59094290	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60425110	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6495147	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67538199	0.87[ASN][1000 genomes]
rs67544533	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7162900	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7167285	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7168680	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7173833	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7175720	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8028632	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8030089	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8033837	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8033925	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8036197	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8036573	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8040169	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8042409	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9672995	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75316600-75336800	Weak transcription	Fetal Brain Female	brain
2	chr15:75316800-75338800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:75317200-75335000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr15:75318000-75341400	Weak transcription	Brain Germinal Matrix	brain
5	chr15:75322200-75335400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr15:75322200-75335400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr15:75322200-75339000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr15:75322400-75336800	Weak transcription	Primary T cells from cord blood	blood
9	chr15:75322400-75339200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr15:75322600-75338600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:75322800-75335200	Weak transcription	Brain Anterior Caudate	brain
12	chr15:75322800-75335600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:75323000-75335000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:75323000-75335000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr15:75323000-75335000	Weak transcription	Gastric	stomach
16	chr15:75323000-75335000	Weak transcription	NHLF	lung
17	chr15:75323000-75335200	Weak transcription	Brain Angular Gyrus	brain
18	chr15:75323000-75335400	Weak transcription	Aorta	Aorta
19	chr15:75323000-75335800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr15:75323000-75336600	Weak transcription	Dnd41	blood
21	chr15:75323400-75335000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr15:75323400-75335000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr15:75323400-75335600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr15:75323600-75335000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr15:75323600-75336000	Weak transcription	Thymus	Thymus
26	chr15:75324600-75335000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:75324600-75339200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr15:75328600-75336000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:75328600-75338800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr15:75328800-75350400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr15:75329000-75335200	Weak transcription	Small Intestine	intestine
32	chr15:75329000-75335200	Weak transcription	HSMMtube	muscle
33	chr15:75329200-75335000	Weak transcription	Colonic Mucosa	Colon
34	chr15:75329200-75338800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr15:75329200-75350400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr15:75329400-75336000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:75329400-75346800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr15:75329600-75335000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr15:75329600-75335200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr15:75329600-75335200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr15:75329600-75336400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr15:75329800-75335200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr15:75330200-75335000	Enhancers	Primary hematopoietic stem cells	blood
44	chr15:75330400-75335000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:75330400-75335200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:75330400-75335200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:75330400-75335400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr15:75330600-75335000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr15:75330600-75335000	Weak transcription	HSMM	muscle
50	chr15:75330600-75335000	Weak transcription	Osteobl	bone

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