Variant report

Variant	rs6151443
Chromosome Location	chr15:59980357-59980358
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr15:59980282-59981042	Hela-S3	cervix:	n/a	n/a
2	SPI1	chr15:59980072-59980395	GM12878	blood:	n/a	n/a
3	ELK1	chr15:59980051-59980863	K562	blood:	n/a	chr15:59980291-59980300 chr15:59980291-59980300
4	POLR2A	chr15:59980050-59982314	NB4	blood:	n/a	n/a
5	JUND	chr15:59980085-59980423	K562	blood:	n/a	n/a
6	MXI1	chr15:59980247-59981945	Hela-S3	cervix:	n/a	n/a
7	IRF1	chr15:59980085-59981955	K562	blood:	n/a	chr15:59981805-59981819 chr15:59981815-59981828
8	CTCF	chr15:59980032-59984022	A549	lung:	n/a	n/a
9	POLR2A	chr15:59979986-59982227	GM12878	blood:	n/a	n/a
10	GABPA	chr15:59979737-59981942	A549	lung:	n/a	n/a
11	GATA2	chr15:59980022-59980745	HUVEC	blood vessel:	n/a	n/a
12	ELK1	chr15:59980029-59981849	GM12878	blood:	n/a	chr15:59980291-59980300 chr15:59980291-59980300
13	POLR2A	chr15:59979315-59982513	MCF10A-Er-Src	breast:	n/a	n/a
14	SPI1	chr15:59980067-59980415	GM12891	blood:	n/a	n/a
15	POLR2A	chr15:59980112-59980401	K562	blood:	n/a	n/a
16	MXI1	chr15:59979968-59982637	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr15:59979906-59980475	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr15:59979869-59982333	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr15:59980102-59980506	HUVEC	blood vessel:	n/a	n/a
20	SPI1	chr15:59980113-59980370	K562	blood:	n/a	n/a
21	SPI1	chr15:59980002-59980391	GM12891	blood:	n/a	n/a
22	GABPA	chr15:59980066-59980429	K562	blood:	n/a	n/a
23	GABPA	chr15:59980053-59980568	MCF-7	breast:	n/a	n/a
24	POLR2A	chr15:59979865-59982169	GM12891	blood:	n/a	n/a
25	CHD1	chr15:59980233-59980938	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:59979863-59982314	Hela-S3	cervix:	n/a	n/a
27	GATA1	chr15:59979887-59982469	PBDE	blood:	n/a	n/a
28	ELK1	chr15:59980145-59981896	Hela-S3	cervix:	n/a	chr15:59980291-59980300 chr15:59980291-59980300
29	TBP	chr15:59980046-59981204	GM12878	blood:	n/a	n/a
30	SIN3A	chr15:59979857-59980415	GM12878	blood:	n/a	n/a
31	SPI1	chr15:59979938-59980515	HL-60	blood:	n/a	n/a
32	POLR2A	chr15:59979944-59980383	GM12878	blood:	n/a	n/a
33	HCFC1	chr15:59980047-59982663	Hela-S3	cervix:	n/a	n/a
34	TBL1XR1	chr15:59979883-59981049	K562	blood:	n/a	n/a
35	MAZ	chr15:59980249-59980449	K562	blood:	n/a	n/a
36	POLR2A	chr15:59979956-59980382	GM12892	blood:	n/a	n/a
37	JUN	chr15:59979681-59982479	K562	blood:	n/a	n/a
38	POLR2A	chr15:59980147-59982210	GM12892	blood:	n/a	n/a
39	POLR2A	chr15:59979847-59982081	K562	blood:	n/a	n/a
40	SPI1	chr15:59979907-59980410	GM12878	blood:	n/a	n/a
41	POLR2A	chr15:59980038-59982315	HL-60	blood:	n/a	n/a
42	ZMIZ1	chr15:59980205-59980443	K562	blood:	n/a	n/a
43	EP300	chr15:59980130-59982296	K562	blood:	n/a	chr15:59980292-59980299
44	STAT3	chr15:59980222-59980422	MCF10A-Er-Src	breast:	n/a	n/a
45	MYC	chr15:59980029-59982309	NB4	blood:	n/a	n/a
46	SPI1	chr15:59980099-59980442	HL-60	blood:	n/a	n/a
47	POLR2A	chr15:59980281-59982276	K562	blood:	n/a	n/a
48	POLR2A	chr15:59979872-59982471	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr15:59979846-59982515	PBDE	blood:	n/a	n/a
50	MAZ	chr15:59979931-59982669	IMR90	lung:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:59979537..59981515-chr15:60770595..60772119,2	K562	blood:
2	chr15:59979548..59984505-chr15:60688391..60691990,7	K562	blood:
3	chr15:59946363..59951356-chr15:59979923..59984049,7	K562	blood:
4	chr15:59979537..59982042-chr15:60770595..60772312,3	K562	blood:
5	chr15:59947605..59950537-chr15:59979625..59981765,3	MCF-7	breast:
6	chr15:59970781..59973494-chr15:59980091..59981802,2	MCF-7	breast:
7	chr15:59945879..59953077-chr15:59978622..59984049,13	K562	blood:
8	chr15:59979503..59981285-chr3:183330477..183331977,2	K562	blood:
9	chr15:59980114..59982040-chr15:60675665..60677456,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259238	TF binding region
ENSG00000140307	Chromatin interaction
ENSG00000243584	Chromatin interaction
ENSG00000245534	Chromatin interaction
ENSG00000140299	Chromatin interaction
ENSG00000182718	Chromatin interaction
ENSG00000128915	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12050786	0.85[EUR][1000 genomes]
rs12161947	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12161992	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12161993	0.93[CHB][hapmap];0.93[JPT][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16941544	0.83[JPT][hapmap];0.81[YRI][hapmap]
rs17236713	0.93[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap]
rs17236734	0.83[JPT][hapmap]
rs17302448	0.93[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap]
rs17302608	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2306359	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28395445	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28654927	0.84[EUR][1000 genomes]
rs28883924	0.84[EUR][1000 genomes]
rs2899650	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4775192	0.83[JPT][hapmap]
rs4775193	0.97[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap]
rs4775198	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6151457	0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6151492	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6151497	1.00[ASW][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6151505	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6151522	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6151534	0.81[CHB][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6151538	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6151540	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6151567	0.83[JPT][hapmap]
rs6151591	0.82[JPT][hapmap]
rs8026404	0.80[LWK][hapmap];1.00[YRI][hapmap]
rs8033208	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv533240	chr15:59858093-59998176	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1824522	chr15:59919844-59987181	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr15:59976400-59980400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:59977000-59980400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr15:59977200-59981000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:59977800-59980600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr15:59977800-59980800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:59977800-59981000	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr15:59978200-59981000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr15:59978400-59980600	Enhancers	Small Intestine	intestine
9	chr15:59979400-59980400	Flanking Active TSS	HUVEC	blood vessel
10	chr15:59979400-59980600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr15:59979400-59980600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr15:59979600-59980400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:59979600-59980400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr15:59979600-59980400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr15:59979600-59980400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:59979600-59980400	Flanking Active TSS	Liver	Liver
17	chr15:59979600-59980400	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr15:59979600-59980400	Enhancers	Pancreas	Pancrea
19	chr15:59979600-59980400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr15:59979600-59980400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr15:59979600-59980400	Flanking Active TSS	A549	lung
22	chr15:59979600-59980400	Flanking Active TSS	Dnd41	blood
23	chr15:59979600-59980400	Flanking Active TSS	HMEC	breast
24	chr15:59979600-59980400	Flanking Active TSS	NHEK	skin
25	chr15:59979600-59980600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr15:59979600-59980600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr15:59979600-59980600	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr15:59979600-59980600	Enhancers	Spleen	Spleen
29	chr15:59979600-59980600	Flanking Active TSS	Hela-S3	cervix
30	chr15:59979600-59980800	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr15:59979600-59981200	Active TSS	Right Atrium	heart
32	chr15:59979600-59982400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:59979600-59982400	Active TSS	GM12878-XiMat	blood
34	chr15:59979600-59982400	Active TSS	HSMMtube	muscle
35	chr15:59979800-59980400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr15:59979800-59980400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:59979800-59980400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr15:59979800-59980400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr15:59979800-59980400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr15:59979800-59980400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr15:59979800-59980400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:59979800-59980400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr15:59979800-59980400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr15:59979800-59980400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr15:59979800-59980400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:59979800-59980400	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr15:59979800-59980400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:59979800-59980400	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr15:59979800-59980400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr15:59979800-59980400	Flanking Active TSS	Fetal Intestine Small	intestine

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