Variant report

Variant	rs16957189
Chromosome Location	chr15:72896802-72896803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:72896783-72897554	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr15:72896321-72896803	SK-N-MC	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:72896757-72896807	NH-A	brain:	n/a
2	chr15:72896757-72896807	ovcar-3	ovarian:	n/a
3	chr15:72896757-72896807	AG10803	skin:	n/a
4	chr15:72896757-72896807	GM12892	blood:	n/a
5	chr15:72896757-72896807	AoSMC	blood vessel:	n/a
6	chr15:72896757-72896807	HCPEpiC	choroid plexus:	n/a
7	chr15:72896757-72896807	SK-N-SH_RA	brain:	n/a
8	chr15:72896757-72896807	AG04449	skin:	fetal
9	chr15:72896757-72896807	MCF10A-Er-Src	breast:	n/a
10	chr15:72896757-72896807	SKMC	muscle:	n/a
11	chr15:72896757-72896807	ECC-1	luminal epithelium:	n/a
12	chr15:72896757-72896807	H1-hESC	embryonic stem cell:	embryo
13	chr15:72896757-72896807	AG09309	skin:	n/a
14	chr15:72896757-72896807	U87	brain:	n/a
15	chr15:72896757-72896807	HIPEpiC	eye:	n/a
16	chr15:72896757-72896807	NHBE	bronchial:	n/a
17	chr15:72896757-72896807	SK-N-MC	brain:	n/a
18	chr15:72896757-72896807	HepG2	liver:	n/a
19	chr15:72896757-72896807	SK-N-SH	brain:	n/a
20	chr15:72896757-72896807	GM12878	blood:	n/a
21	chr15:72896757-72896807	HRCEpiC	kidney:	n/a
22	chr15:72896757-72896807	RPTEC	kidney:	n/a
23	chr15:72896757-72896807	ProgFib	skin:	n/a
24	chr15:72896757-72896807	NT2-D1	testis:	n/a
25	chr15:72896757-72896807	BE2_C	brain:	n/a
26	chr15:72896757-72896807	GM19239	blood:	n/a
27	chr15:72896757-72896807	HL-60	blood:	n/a
28	chr15:72896757-72896807	GM06990	blood:	n/a
29	chr15:72896757-72896807	SAEC	small airway:	n/a
30	chr15:72896757-72896807	MCF-7	breast:	n/a
31	chr15:72896757-72896807	HMEC	breast:	n/a
32	chr15:72896757-72896807	A549	lung:	n/a
33	chr15:72896757-72896807	NHDF-neo	bronchial:	n/a
34	chr15:72896757-72896807	LNCaP	prostate:	n/a
35	chr15:72896757-72896807	HNPCEpiC	eye:	n/a
36	chr15:72896757-72896807	HEEpiC	esophagus:	n/a
37	chr15:72896757-72896807	HPAEpiC	pulmonary alveolar:	n/a
38	chr15:72896757-72896807	PANC-1	pancreas:	n/a
39	chr15:72896757-72896807	CMK	blood:	n/a
40	chr15:72896757-72896807	Hela-S3	cervix:	n/a
41	chr15:72896757-72896807	PFSK-1	brain:	n/a
42	chr15:72896757-72896807	K562	blood:	n/a
43	chr15:72896757-72896807	HCM	heart:	n/a
44	chr15:72896757-72896807	BJ	skin:	n/a
45	chr15:72896757-72896807	HCF	heart:	n/a
46	chr15:72896757-72896807	PrEC	prostate:	n/a
47	chr15:72896757-72896807	HRE	kidney:	n/a
48	chr15:72896757-72896807	HRPEpiC	eye:	n/a
49	chr15:72896757-72896807	HCT-116	colon:	n/a
50	chr15:72896757-72896807	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72887495..72890185-chr15:72895152..72897454,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260144	TF binding region
ENSG00000260144	CpG island

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10220917	1.00[ASN][1000 genomes]
rs10518988	0.90[CEU][hapmap]
rs11072372	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11072376	0.82[EUR][1000 genomes]
rs12439127	1.00[ASN][1000 genomes]
rs12900846	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs16953788	1.00[ASN][1000 genomes]
rs16956759	1.00[ASN][1000 genomes]
rs16956826	1.00[ASN][1000 genomes]
rs16956904	1.00[CHB][hapmap]
rs16957064	1.00[CEU][hapmap]
rs16957154	1.00[ASN][1000 genomes]
rs16957161	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1808495	0.81[EUR][1000 genomes]
rs1816645	1.00[ASN][1000 genomes]
rs1963894	1.00[ASN][1000 genomes]
rs2415135	0.90[CEU][hapmap]
rs28393893	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28422889	1.00[ASN][1000 genomes]
rs28429820	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28435710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28437631	1.00[CHB][hapmap]
rs28439115	1.00[ASN][1000 genomes]
rs28453701	1.00[ASN][1000 genomes]
rs28460872	0.84[EUR][1000 genomes]
rs28471053	1.00[ASN][1000 genomes]
rs28493570	1.00[ASN][1000 genomes]
rs28534054	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28541481	1.00[ASN][1000 genomes]
rs28602765	1.00[ASN][1000 genomes]
rs28607101	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28654703	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28661594	1.00[ASN][1000 genomes]
rs28766358	0.84[EUR][1000 genomes]
rs28795465	1.00[ASN][1000 genomes]
rs28832330	1.00[ASN][1000 genomes]
rs4776602	0.82[EUR][1000 genomes]
rs4776603	0.82[EUR][1000 genomes]
rs4777514	0.82[EUR][1000 genomes]
rs4777516	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4777517	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs6495002	1.00[ASN][1000 genomes]
rs7174825	0.90[CEU][hapmap]
rs7175376	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7177472	0.82[EUR][1000 genomes]
rs72735173	0.84[EUR][1000 genomes]
rs72735181	0.84[EUR][1000 genomes]
rs72735185	0.92[EUR][1000 genomes]
rs72735188	0.92[EUR][1000 genomes]
rs72735194	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73440586	1.00[ASN][1000 genomes]
rs73442510	1.00[ASN][1000 genomes]
rs8023504	0.92[EUR][1000 genomes]
rs8024715	1.00[CEU][hapmap]
rs8025088	0.90[CEU][hapmap]
rs8026681	0.90[CEU][hapmap]
rs8027871	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8037282	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs8039489	1.00[ASN][1000 genomes]
rs9806212	1.00[ASN][1000 genomes]
rs9806258	1.00[ASN][1000 genomes]
rs9806374	1.00[ASN][1000 genomes]
rs9944261	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs998225	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72841000-72909000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:72870800-72902200	Weak transcription	Gastric	stomach
3	chr15:72874800-72899800	Weak transcription	Fetal Stomach	stomach
4	chr15:72876200-72903400	Weak transcription	Brain Germinal Matrix	brain
5	chr15:72876200-72907800	Weak transcription	Brain Substantia Nigra	brain
6	chr15:72876400-72903800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:72876800-72907600	Weak transcription	Lung	lung
8	chr15:72877800-72910000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr15:72878400-72907800	Weak transcription	Left Ventricle	heart
10	chr15:72879800-72906400	Weak transcription	Adipose Nuclei	Adipose
11	chr15:72883200-72909000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:72888000-72908200	Weak transcription	Right Ventricle	heart
13	chr15:72892600-72903600	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:72894200-72899600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:72894600-72909000	Weak transcription	HSMMtube	muscle
16	chr15:72894800-72903800	Weak transcription	Fetal Intestine Small	intestine
17	chr15:72895200-72906000	Weak transcription	Fetal Brain Female	brain
18	chr15:72896400-72897000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:72896600-72897800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:72896800-72897200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr15:72896800-72897600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr15:72896800-72897600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr15:72896800-72897800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr15:72896800-72897800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr15:72896800-72897800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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