Variant report

Variant	rs34142677
Chromosome Location	chr15:75334708-75334709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

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	chr15:75334061-75334843	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:75334051-75334795	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:75333297-75341736	GM12878	blood:	n/a	n/a
5	MTA3	chr15:75334372-75334787	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:75333262-75344076	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75333855..75341122-chr15:75492635..75495814,9	MCF-7	breast:
2	chr15:75314438..75320960-chr15:75334023..75339188,6	K562	blood:
3	chr15:75331603..75340227-chr15:75492938..75499942,15	K562	blood:
4	chr15:75334055..75342899-chr15:75492444..75498798,20	K562	blood:
5	chr15:75332512..75342228-chr15:75491817..75496419,22	MCF-7	breast:

No data

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

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12899456	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12902887	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12905058	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12905176	0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12905302	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12906126	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12906783	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12908596	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12908919	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12910578	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12911696	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16973563	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17336944	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1822324	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2304900	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34025186	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34183160	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34227381	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34268734	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34293738	0.83[AMR][1000 genomes]
rs34359839	0.83[AMR][1000 genomes]
rs34767908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34820454	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34911644	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35056361	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35205508	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35373072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35375675	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35396991	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35406858	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35933822	0.83[AMR][1000 genomes]
rs55949919	1.00[ASN][1000 genomes]
rs57057521	0.88[ASN][1000 genomes]
rs57985760	0.93[ASN][1000 genomes]
rs58235768	0.93[ASN][1000 genomes]
rs71401669	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71401671	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71401672	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71401673	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71401675	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs71401676	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs71401677	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs71434254	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7176972	0.95[ASN][1000 genomes]
rs72475967	1.00[ASN][1000 genomes]
rs74023907	0.93[ASN][1000 genomes]
rs74023911	0.92[ASN][1000 genomes]
rs74023915	1.00[ASN][1000 genomes]
rs74023917	1.00[ASN][1000 genomes]
rs74023928	1.00[ASN][1000 genomes]
rs74023944	0.95[ASN][1000 genomes]
rs74025864	0.88[ASN][1000 genomes]
rs8038911	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][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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