Variant report

Variant	rs6603043
Chromosome Location	chr15:83680763-83680764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:317)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr15:83679368-83680879	K562	blood:	n/a	n/a
2	GTF2F1	chr15:83680197-83681061	K562	blood:	n/a	n/a
3	GABPA	chr15:83679631-83680897	A549	lung:	n/a	chr15:83680388-83680402 chr15:83680391-83680402 chr15:83680393-83680402 chr15:83680391-83680405
4	MAX	chr15:83679626-83680949	MCF-7	breast:	n/a	n/a
5	BCL3	chr15:83680095-83681014	A549	lung:	n/a	n/a
6	STAT1	chr15:83680137-83680936	GM12878	blood:	n/a	chr15:83680646-83680660
7	POLR2A	chr15:83678960-83682105	GM12891	blood:	n/a	n/a
8	STAT5A	chr15:83680248-83680801	K562	blood:	n/a	chr15:83680646-83680660
9	E2F4	chr15:83680141-83680806	K562	blood:	n/a	chr15:83680392-83680401
10	CBX3	chr15:83680286-83681010	K562	blood:	n/a	n/a
11	POLR2A	chr15:83679681-83680799	ProgFib	skin:	n/a	n/a
12	POLR2A	chr15:83679662-83680819	NB4	blood:	n/a	n/a
13	MAX	chr15:83679584-83680980	GM12878	blood:	n/a	n/a
14	RELA	chr15:83679597-83681036	GM18951	blood:	n/a	n/a
15	SMC3	chr15:83680259-83680808	K562	blood:	n/a	n/a
16	POLR2A	chr15:83679488-83681032	HUVEC	blood vessel:	n/a	n/a
17	SIN3AK20	chr15:83679488-83680870	A549	lung:	n/a	n/a
18	TAF1	chr15:83680100-83680818	K562	blood:	n/a	n/a
19	RCOR1	chr15:83680256-83680983	GM12878	blood:	n/a	n/a
20	RCOR1	chr15:83679627-83680777	HepG2	liver:	n/a	n/a
21	TCF7L2	chr15:83680161-83680805	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr15:83679762-83680935	GM12892	blood:	n/a	n/a
23	POLR2A	chr15:83679685-83680870	GM12878	blood:	n/a	n/a
24	TAF1	chr15:83679581-83680809	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr15:83679670-83680946	GM12891	blood:	n/a	n/a
26	SMC3	chr15:83679550-83680906	GM12878	blood:	n/a	n/a
27	POLR2A	chr15:83679525-83681003	PFSK-1	brain:	n/a	n/a
28	SETDB1	chr15:83679757-83681170	K562	blood:	n/a	chr15:83680392-83680401
29	ELF1	chr15:83680067-83680850	A549	lung:	n/a	n/a
30	MAX	chr15:83680184-83680902	HepG2	liver:	n/a	n/a
31	SP1	chr15:83679488-83680886	A549	lung:	n/a	n/a
32	HEY1	chr15:83680081-83681156	K562	blood:	n/a	n/a
33	UBTF	chr15:83679635-83680786	K562	blood:	n/a	n/a
34	YY1	chr15:83679660-83680773	K562	blood:	n/a	n/a
35	FOXM1	chr15:83680042-83680910	GM12878	blood:	n/a	n/a
36	POLR2A	chr15:83680011-83680861	GM12891	blood:	n/a	n/a
37	MAX	chr15:83679512-83680954	ECC-1	luminal epithelium:	n/a	n/a
38	MTA3	chr15:83680157-83680940	GM12878	blood:	n/a	n/a
39	POLR2A	chr15:83680132-83680783	A549	lung:	n/a	n/a
40	MAX	chr15:83679659-83681022	ECC-1	luminal epithelium:	n/a	n/a
41	CTCF	chr15:83680760-83680910	NHLF	lung:	n/a	n/a
42	POLR2A	chr15:83680191-83681053	K562	blood:	n/a	n/a
43	FOSL2	chr15:83680131-83680796	A549	lung:	n/a	n/a
44	TEAD4	chr15:83680148-83681552	K562	blood:	n/a	n/a
45	CEBPB	chr15:83680515-83680779	HepG2	liver:	n/a	n/a
46	MAZ	chr15:83679577-83681262	K562	blood:	n/a	n/a
47	MAX	chr15:83679580-83681047	MCF-7	breast:	n/a	n/a
48	POLR2A	chr15:83679667-83680817	GM12892	blood:	n/a	n/a
49	MYC	chr15:83680254-83680775	K562	blood:	n/a	n/a
50	POLR2A	chr15:83679537-83680962	H1-neurons	neurons:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83678535..83684480-chr15:83731660..83738533,12	MCF-7	breast:
2	chr15:83516928..83520058-chr15:83678480..83682741,4	K562	blood:
3	chr15:83679004..83681789-chr15:83733343..83738150,8	MCF-7	breast:
4	chr15:83348285..83351278-chr15:83678934..83682211,3	MCF-7	breast:
5	chr15:83679195..83681271-chr15:83795082..83797349,2	K562	blood:
6	chr15:83418143..83420234-chr15:83679510..83682009,2	K562	blood:
7	chr15:83678614..83685168-chr15:83874398..83879059,12	MCF-7	breast:
8	chr15:83679523..83682277-chr15:83776010..83777597,2	K562	blood:
9	chr15:83679205..83686226-chr15:83733349..83739878,12	K562	blood:
10	chr15:83654223..83656996-chr15:83678905..83681492,4	MCF-7	breast:
11	chr15:83679499..83683217-chr15:83687466..83692124,6	K562	blood:
12	chr15:83314747..83316448-chr15:83680031..83681739,2	K562	blood:
13	chr15:83678350..83680791-chr15:83692946..83695679,3	MCF-7	breast:
14	chr15:83678946..83682301-chr15:83733959..83737732,7	K562	blood:
15	chr15:83678260..83683197-chr15:83874959..83878158,5	K562	blood:
16	chr15:83678154..83684518-chr15:83871554..83879371,12	MCF-7	breast:
17	chr15:83679404..83681095-chr21:46492672..46494798,2	MCF-7	breast:
18	chr15:83475882..83480852-chr15:83678880..83683242,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260608	TF binding region
ENSG00000249214	TF binding region
C15orf40	TF binding region
ENSG00000136404	Chromatin interaction
ENSG00000259767	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000169612	Chromatin interaction
ENSG00000103942	Chromatin interaction
ENSG00000260351	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000064726	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000263643	Chromatin interaction
ENSG00000166503	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000103723	Chromatin interaction
ENSG00000214575	Chromatin interaction
ENSG00000250988	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2002408	1.00[MEX][hapmap]
rs4258575	1.00[YRI][hapmap]
rs7169484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72758339	0.83[AMR][1000 genomes]
rs8025060	1.00[AMR][1000 genomes]
rs8028643	1.00[MEX][hapmap]
rs8031595	1.00[MEX][hapmap]
rs8041022	1.00[AMR][1000 genomes]
rs8041403	1.00[MEX][hapmap]
rs8041838	1.00[MEX][hapmap];0.83[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	nsv1040336	chr15:83578947-83768335	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv482308	chr15:83584918-83747362	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83679000-83680800	Active TSS	A549	lung
2	chr15:83679200-83681400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr15:83679200-83681400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:83679400-83680800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr15:83679400-83680800	Active TSS	Aorta	Aorta
6	chr15:83679400-83680800	Active TSS	Right Ventricle	heart
7	chr15:83679400-83681000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:83679400-83681000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:83679400-83681000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr15:83679400-83681200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr15:83679400-83681200	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr15:83679400-83681400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:83679600-83680800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:83679600-83680800	Active TSS	Fetal Kidney	kidney
15	chr15:83679600-83681000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr15:83679600-83681200	Active TSS	Ovary	ovary
17	chr15:83679600-83681400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr15:83679800-83680800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:83679800-83680800	Active TSS	Brain Angular Gyrus	brain
20	chr15:83679800-83680800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr15:83679800-83680800	Active TSS	Fetal Brain Male	brain
22	chr15:83679800-83680800	Active TSS	Fetal Lung	lung
23	chr15:83679800-83680800	Active TSS	Small Intestine	intestine
24	chr15:83679800-83680800	Active TSS	Thymus	Thymus
25	chr15:83679800-83681000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr15:83679800-83681200	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr15:83679800-83681200	Active TSS	Psoas Muscle	Psoas
28	chr15:83680000-83680800	Active TSS	Liver	Liver
29	chr15:83680000-83680800	Active TSS	Gastric	stomach
30	chr15:83680400-83681000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr15:83680400-83681000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr15:83680400-83681000	Flanking Active TSS	Placenta	Placenta
33	chr15:83680400-83681000	Flanking Active TSS	HUVEC	blood vessel
34	chr15:83680400-83681200	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr15:83680400-83681400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:83680400-83681400	Flanking Active TSS	NH-A	brain
37	chr15:83680400-83681600	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr15:83680400-83681600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:83680400-83681600	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr15:83680400-83681600	Flanking Active TSS	Hela-S3	cervix
41	chr15:83680400-83681800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:83680600-83680800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:83680600-83680800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr15:83680600-83680800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:83680600-83680800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:83680600-83680800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr15:83680600-83680800	Flanking Active TSS	Fetal Brain Female	brain
48	chr15:83680600-83680800	Flanking Active TSS	Lung	lung
49	chr15:83680600-83680800	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr15:83680600-83680800	Flanking Active TSS	Spleen	Spleen

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