Variant report

Variant	rs16957159
Chromosome Location	chr15:72876523-72876524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:72875838-72883343	K562	blood:	n/a	n/a
2	POLR2A	chr15:72876429-72876781	K562	blood:	n/a	n/a
3	TEAD4	chr15:72876303-72876734	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr15:72875981-72876694	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:72876477-72876862	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr15:72876453-72876721	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr15:72876335-72876739	K562	blood:	n/a	n/a
8	POLR2A	chr15:72876391-72876714	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:72876508-72876558	HRCEpiC	kidney:	n/a
2	chr15:72876508-72876558	ECC-1	luminal epithelium:	n/a
3	chr15:72876508-72876558	HAEpiC	amniotic membrane:	n/a
4	chr15:72876508-72876558	Caco-2	colon:	n/a
5	chr15:72876508-72876558	T-47D	breast:	n/a
6	chr15:72876508-72876558	LNCaP	prostate:	n/a
7	chr15:72876508-72876558	HL-60	blood:	n/a
8	chr15:72876508-72876558	AG04449	skin:	fetal
9	chr15:72876508-72876558	H1-hESC	embryonic stem cell:	embryo
10	chr15:72876508-72876558	MCF10A-Er-Src	breast:	n/a
11	chr15:72876508-72876558	Hepatocyte	liver:	n/a
12	chr15:72876508-72876558	AG09319	gingival:	n/a
13	chr15:72876508-72876558	SAEC	small airway:	n/a
14	chr15:72876508-72876558	SK-N-SH	brain:	n/a
15	chr15:72876508-72876558	GM19239	blood:	n/a
16	chr15:72876508-72876558	SKMC	muscle:	n/a
17	chr15:72876508-72876558	CMK	blood:	n/a
18	chr15:72876508-72876558	PFSK-1	brain:	n/a
19	chr15:72876508-72876558	SK-N-MC	brain:	n/a
20	chr15:72876508-72876558	Hela-S3	cervix:	n/a
21	chr15:72876508-72876558	SK-N-SH_RA	brain:	n/a
22	chr15:72876508-72876558	GM12892	blood:	n/a
23	chr15:72876508-72876558	NB4	blood:	n/a
24	chr15:72876508-72876558	BE2_C	brain:	n/a
25	chr15:72876508-72876558	HCPEpiC	choroid plexus:	n/a
26	chr15:72876508-72876558	NH-A	brain:	n/a
27	chr15:72876508-72876558	MCF-7	breast:	n/a
28	chr15:72876508-72876558	A549	lung:	n/a
29	chr15:72876508-72876558	AG09309	skin:	n/a
30	chr15:72876508-72876558	GM12878	blood:	n/a
31	chr15:72876508-72876558	HCF	heart:	n/a
32	chr15:72876508-72876558	U87	brain:	n/a
33	chr15:72876508-72876558	PrEC	prostate:	n/a
34	chr15:72876508-72876558	GM12891	blood:	n/a
35	chr15:72876508-72876558	AG04450	lung:	fetal
36	chr15:72876508-72876558	NT2-D1	testis:	n/a
37	chr15:72876508-72876558	HRE	kidney:	n/a
38	chr15:72876508-72876558	RPTEC	kidney:	n/a
39	chr15:72876508-72876558	HMEC	breast:	n/a
40	chr15:72876508-72876558	HEEpiC	esophagus:	n/a
41	chr15:72876508-72876558	ProgFib	skin:	n/a
42	chr15:72876508-72876558	HepG2	liver:	n/a
43	chr15:72876508-72876558	HCM	heart:	n/a
44	chr15:72876508-72876558	PANC-1	pancreas:	n/a
45	chr15:72876508-72876558	HRPEpiC	eye:	n/a
46	chr15:72876508-72876558	NHDF-neo	bronchial:	n/a
47	chr15:72876508-72876558	HIPEpiC	eye:	n/a
48	chr15:72876508-72876558	HNPCEpiC	eye:	n/a
49	chr15:72876508-72876558	HEK293	kidney:	embryo
50	chr15:72876508-72876558	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72875535..72877060-chr15:72880584..72882682,2	K562	blood:
2	chr15:72875994..72878313-chr15:72882141..72883878,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR630	TF binding region
MIR630	CpG island
ENSG00000260534	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10152810	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12437909	1.00[AFR][1000 genomes]
rs12442850	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs12593434	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs12595243	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs16956783	1.00[AFR][1000 genomes]
rs16956788	1.00[AFR][1000 genomes]
rs16956884	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs16956890	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs16956893	1.00[JPT][hapmap]
rs16956917	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs16956997	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs16957050	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs16957148	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1800428	1.00[AFR][1000 genomes]
rs1863495	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35778233	1.00[AFR][1000 genomes]
rs3784586	1.00[AFR][1000 genomes]
rs4556749	1.00[CEU][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv569947	chr15:72800853-72878772	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv569948	chr15:72811402-72878772	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	esv3430383	chr15:72821093-73035167	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv521972	chr15:72859770-72878772	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	7 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	chr15:72829200-72880800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:72841000-72909000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:72846600-72878400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:72847000-72878400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr15:72847800-72878000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr15:72847800-72878400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr15:72850200-72880800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:72851400-72877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:72852000-72878800	Strong transcription	Placenta	Placenta
10	chr15:72852800-72878400	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr15:72853600-72879800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr15:72854400-72879400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:72855200-72878400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:72855800-72879800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:72857400-72878400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr15:72857400-72881000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr15:72858200-72878600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr15:72858400-72878200	Strong transcription	Primary T cells from cord blood	blood
19	chr15:72859200-72880000	Strong transcription	Liver	Liver
20	chr15:72861000-72878800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:72861200-72877400	Strong transcription	Dnd41	blood
22	chr15:72861400-72880000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr15:72862000-72877200	Strong transcription	HUVEC	blood vessel
24	chr15:72862400-72876600	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr15:72862400-72878400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr15:72866400-72877600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr15:72866400-72878400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr15:72866600-72878400	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr15:72866800-72879400	Strong transcription	GM12878-XiMat	blood
30	chr15:72867800-72877800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr15:72868200-72879400	Strong transcription	HSMM	muscle
32	chr15:72868400-72876600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr15:72869000-72878000	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr15:72869600-72876800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr15:72869600-72877400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:72869800-72878400	Strong transcription	Fetal Thymus	thymus
37	chr15:72870000-72877400	Strong transcription	Ovary	ovary
38	chr15:72870000-72877600	Strong transcription	Rectal Smooth Muscle	rectum
39	chr15:72870000-72877800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr15:72870000-72878400	Strong transcription	Primary B cells from cord blood	blood
41	chr15:72870000-72878400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr15:72870000-72878400	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr15:72870000-72879800	Strong transcription	NH-A	brain
44	chr15:72870200-72878400	Strong transcription	HMEC	breast
45	chr15:72870200-72878600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr15:72870400-72877600	Strong transcription	Fetal Lung	lung
47	chr15:72870400-72878400	Strong transcription	HepG2	liver
48	chr15:72870400-72881600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:72870800-72877400	Strong transcription	NHEK	skin
50	chr15:72870800-72879200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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