Variant report

Variant	rs35932349
Chromosome Location	chr15:44864894-44864895
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	chr15:44864738-44865086	K562	blood:	n/a	n/a
2	POLR2A	chr15:44864709-44865035	HepG2	liver:	n/a	n/a
3	POLR2A	chr15:44864858-44865108	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr15:44864795-44865178	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr15:44864733-44865210	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr15:44864801-44865010	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:44862426..44865796-chr15:44866440..44868950,5	K562	blood:
2	chr15:44846161..44848847-chr15:44863413..44865479,2	MCF-7	breast:
3	chr15:44863301..44864975-chr15:45050931..45052977,2	K562	blood:

Variant related genes	Relation type
SPG11	TF binding region
ENSG00000185880	Chromatin interaction
ENSG00000104133	Chromatin interaction
ENSG00000104131	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10152685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10152710	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10162700	1.00[CEU][hapmap]
rs12324710	1.00[CEU][hapmap]
rs12591118	0.89[ASN][1000 genomes]
rs12592447	0.89[ASN][1000 genomes]
rs12592479	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs12593632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12594167	1.00[GIH][hapmap]
rs12594578	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.89[ASN][1000 genomes]
rs12594924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12594967	0.89[ASN][1000 genomes]
rs12595615	0.84[ASN][1000 genomes]
rs12595838	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs2277610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2288341	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap]
rs2303577	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[ASN][1000 genomes]
rs2303578	1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2412908	1.00[CEU][hapmap]
rs2555352	1.00[ASW][hapmap]
rs35286810	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.84[ASN][1000 genomes]
rs3759873	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap]
rs3809471	1.00[GIH][hapmap]
rs4477677	1.00[GIH][hapmap]
rs4577056	1.00[GIH][hapmap]
rs57488532	0.84[ASN][1000 genomes]
rs7179390	1.00[CEU][hapmap]
rs9806511	1.00[CEU][hapmap]

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	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44842000-44951600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr15:44843200-44867800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:44843200-44868000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr15:44843600-44866000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:44843800-44867600	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr15:44844000-44866400	Strong transcription	Placenta	Placenta
7	chr15:44844000-44867600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:44844000-44867600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr15:44844000-44868200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr15:44844000-44870400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr15:44844600-44867400	Strong transcription	Stomach Smooth Muscle	stomach
12	chr15:44844600-44867600	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr15:44845600-44865800	Strong transcription	Osteobl	bone
14	chr15:44848400-44868200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr15:44853200-44867400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr15:44853600-44867400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr15:44855000-44867000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr15:44855000-44867600	Strong transcription	Primary T cells from cord blood	blood
19	chr15:44857600-44867400	Strong transcription	Dnd41	blood
20	chr15:44857800-44866200	Strong transcription	Brain Angular Gyrus	brain
21	chr15:44857800-44867000	Weak transcription	Right Atrium	heart
22	chr15:44857800-44867600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:44857800-44867600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:44857800-44867800	Strong transcription	Fetal Intestine Large	intestine
25	chr15:44858000-44865600	Strong transcription	Fetal Muscle Leg	muscle
26	chr15:44858000-44867200	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:44858000-44867600	Strong transcription	Liver	Liver
28	chr15:44858000-44868200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr15:44858000-44900200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr15:44858200-44865800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:44858200-44867200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:44858200-44869600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:44858400-44867200	Strong transcription	Primary B cells from cord blood	blood
34	chr15:44858400-44867600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr15:44858400-44867600	Strong transcription	GM12878-XiMat	blood
36	chr15:44858400-44867800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:44858400-44868000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr15:44858400-44870200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr15:44858400-44897200	Strong transcription	Fetal Stomach	stomach
40	chr15:44858600-44865600	Weak transcription	HepG2	liver
41	chr15:44858600-44867000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:44858600-44867400	Strong transcription	Fetal Thymus	thymus
43	chr15:44858600-44867800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:44858600-44877800	Weak transcription	HUVEC	blood vessel
45	chr15:44858600-44880800	Strong transcription	Fetal Intestine Small	intestine
46	chr15:44858800-44865800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:44858800-44867600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:44858800-44868000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:44858800-44870600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr15:44858800-44870600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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