Variant report

Variant	rs17036655
Chromosome Location	chr12:105503416-105503417
allele	G/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	BCLAF1	chr12:105503206-105504145	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:105503306-105503930	GM12892	blood:	n/a	n/a
3	TAL1	chr12:105502925-105503434	K562	blood:	n/a	n/a
4	BHLHE40	chr12:105503415-105503615	GM12878	blood:	n/a	n/a
5	TAF1	chr12:105503333-105503922	GM12878	blood:	n/a	n/a
6	FOS	chr12:105502941-105504316	HUVEC	blood vessel:	n/a	chr12:105504009-105504016 chr12:105504011-105504019 chr12:105504009-105504021 chr12:105504007-105504018
7	MXI1	chr12:105500112-105503958	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr12:105503226-105504020	HUVEC	blood vessel:	n/a	n/a
9	MTA3	chr12:105503277-105504043	GM12878	blood:	n/a	n/a
10	NFIC	chr12:105503391-105504232	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:105503395-105503983	GM12878	blood:	n/a	n/a
12	TBP	chr12:105503059-105504152	GM12878	blood:	n/a	n/a
13	GATA3	chr12:105502808-105503488	SK-N-SH	brain:	n/a	chr12:105503263-105503279 chr12:105503267-105503274 chr12:105503260-105503281 chr12:105503267-105503274 chr12:105503267-105503274 chr12:105503266-105503276 chr12:105503264-105503274
14	PBX3	chr12:105502796-105503434	SK-N-SH	brain:	n/a	n/a
15	EBF1	chr12:105503318-105503815	GM12878	blood:	n/a	n/a
16	ZNF384	chr12:105503137-105503680	K562	blood:	n/a	n/a
17	EBF1	chr12:105503350-105503989	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:105503357-105504053	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:105503037-105504043	HUVEC	blood vessel:	n/a	n/a
20	PAX5	chr12:105503340-105503760	GM12878	blood:	n/a	n/a
21	EP300	chr12:105503391-105503489	GM12878	blood:	n/a	n/a
22	PAX5	chr12:105503324-105503704	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:105503402-105503987	GM12892	blood:	n/a	n/a
24	TAF1	chr12:105503412-105503572	GM12892	blood:	n/a	n/a
25	CHD1	chr12:105503038-105504152	GM12878	blood:	n/a	n/a
26	STAT5A	chr12:105503375-105503928	GM12878	blood:	n/a	n/a
27	ZNF384	chr12:105503088-105504291	GM12878	blood:	n/a	n/a
28	FOXM1	chr12:105503350-105504138	GM12878	blood:	n/a	n/a
29	MXI1	chr12:105503322-105504143	GM12878	blood:	n/a	n/a
30	TBL1XR1	chr12:105503371-105503975	GM12878	blood:	n/a	n/a
31	FOSL2	chr12:105502824-105503437	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr12:105503298-105504030	GM12892	blood:	n/a	n/a
33	POLR2A	chr12:105502744-105504120	HUVEC	blood vessel:	n/a	n/a
34	TAF1	chr12:105503381-105503605	GM12891	blood:	n/a	n/a
35	POLR2A	chr12:105503413-105503792	GM12878	blood:	n/a	n/a
36	ELF1	chr12:105503398-105503763	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:105503351-105503921	Hela-S3	cervix:	n/a	n/a
38	PML	chr12:105503322-105504122	GM12878	blood:	n/a	n/a
39	POLR2A	chr12:105502998-105503988	HUVEC	blood vessel:	n/a	n/a
40	JUND	chr12:105502850-105503428	SK-N-SH	brain:	n/a	n/a
41	GATA3	chr12:105501021-105503575	SK-N-SH	brain:	n/a	chr12:105502451-105502461 chr12:105503263-105503279 chr12:105502452-105502459 chr12:105503267-105503274 chr12:105502451-105502459 chr12:105503260-105503281 chr12:105502448-105502464 chr12:105503267-105503274 chr12:105502445-105502466 chr12:105503267-105503274 chr12:105503266-105503276 chr12:105502079-105502089 chr12:105502452-105502459 chr12:105502452-105502459 chr12:105502452-105502461 chr12:105503264-105503274
42	TAF1	chr12:105503349-105503563	K562	blood:	n/a	n/a
43	EP300	chr12:105503380-105503993	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:105492565..105494732-chr12:105503331..105505612,2	K562	blood:
2	chr12:105502740..105505259-chr12:105518776..105521182,3	K562	blood:
3	chr12:105477772..105479851-chr12:105501425..105505225,4	MCF-7	breast:
4	chr12:105501229..105503953-chr12:105621352..105624637,3	MCF-7	breast:
5	chr12:104678772..104682731-chr12:105498551..105503490,6	K562	blood:
6	chr12:105500023..105504653-chr12:105628064..105630551,4	K562	blood:
7	chr12:105502302..105504240-chr12:105518371..105521182,2	K562	blood:

Variant related genes	Relation type
ENSG00000257999	TF binding region
ENSG00000136010	Chromatin interaction
ENSG00000136044	Chromatin interaction
ENSG00000235162	Chromatin interaction
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1044607	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17036660	0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17036668	0.84[ASW][hapmap];0.87[AMR][1000 genomes]
rs17036687	0.84[ASW][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17036722	0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4394911	0.83[AFR][1000 genomes]
rs58431410	0.87[AMR][1000 genomes]
rs58670310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59586998	0.85[AFR][1000 genomes]
rs59618886	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60732733	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60887341	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7968154	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats 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	32 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	chr12:105500200-105504000	Active TSS	Brain Anterior Caudate	brain
2	chr12:105500400-105503800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr12:105500400-105504600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:105500400-105505000	Active TSS	K562	blood
5	chr12:105500600-105503600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr12:105500600-105503600	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr12:105500600-105503800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr12:105500600-105503800	Active TSS	Colonic Mucosa	Colon
9	chr12:105500600-105503800	Active TSS	HSMMtube	muscle
10	chr12:105500600-105504200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:105500800-105503600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr12:105500800-105503600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:105500800-105503600	Active TSS	Primary B cells from peripheral blood	blood
14	chr12:105500800-105503600	Active TSS	Fetal Intestine Large	intestine
15	chr12:105500800-105503600	Active TSS	Fetal Intestine Small	intestine
16	chr12:105500800-105503600	Active TSS	Right Ventricle	heart
17	chr12:105500800-105503800	Active TSS	A549	lung
18	chr12:105500800-105504000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr12:105500800-105504400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:105500800-105504800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:105501000-105503600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:105501000-105503600	Active TSS	Colon Smooth Muscle	Colon
23	chr12:105501000-105505600	Active TSS	GM12878-XiMat	blood
24	chr12:105501200-105503800	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr12:105501200-105504800	Active TSS	NHLF	lung
26	chr12:105502000-105504000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr12:105502000-105505000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:105502200-105504000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr12:105502200-105504200	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr12:105502200-105504200	Flanking Active TSS	Dnd41	blood
31	chr12:105502200-105504600	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr12:105502200-105505400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:105502400-105503600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:105502400-105504000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr12:105502400-105504400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr12:105502400-105524600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:105502600-105503800	Enhancers	Fetal Heart	heart
38	chr12:105502600-105504000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr12:105502600-105504400	Flanking Active TSS	NH-A	brain
40	chr12:105502600-105504600	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr12:105502600-105505000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:105502800-105503800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:105502800-105503800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr12:105502800-105503800	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr12:105502800-105504000	Flanking Active TSS	NHEK	skin
46	chr12:105502800-105504200	Flanking Active TSS	Osteobl	bone
47	chr12:105502800-105505000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr12:105502800-105505800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:105502800-105516400	Weak transcription	Spleen	Spleen
50	chr12:105503000-105503600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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