Variant report

Variant	rs16957297
Chromosome Location	chr15:73079208-73079209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:73079169-73079219	HRE	kidney:	n/a
2	chr15:73079169-73079219	AG04450	lung:	fetal
3	chr15:73079169-73079219	IMR90	lung:	fetal
4	chr15:73079169-73079219	HNPCEpiC	eye:	n/a
5	chr15:73079169-73079219	MCF10A-Er-Src	breast:	n/a
6	chr15:73079169-73079219	HMEC	breast:	n/a
7	chr15:73079169-73079219	HEEpiC	esophagus:	n/a
8	chr15:73079169-73079219	AG10803	skin:	n/a
9	chr15:73079169-73079219	GM12878	blood:	n/a
10	chr15:73079169-73079219	SKMC	muscle:	n/a
11	chr15:73079169-73079219	HEK293	kidney:	embryo
12	chr15:73079169-73079219	Caco-2	colon:	n/a
13	chr15:73079169-73079219	A549	lung:	n/a
14	chr15:73079169-73079219	ProgFib	skin:	n/a
15	chr15:73079169-73079219	GM12892	blood:	n/a
16	chr15:73079169-73079219	GM06990	blood:	n/a
17	chr15:73079169-73079219	SK-N-SH_RA	brain:	n/a
18	chr15:73079169-73079219	HPAEpiC	pulmonary alveolar:	n/a
19	chr15:73079169-73079219	LNCaP	prostate:	n/a
20	chr15:73079169-73079219	BE2_C	brain:	n/a
21	chr15:73079169-73079219	AG09319	gingival:	n/a
22	chr15:73079169-73079219	HL-60	blood:	n/a
23	chr15:73079169-73079219	GM12891	blood:	n/a
24	chr15:73079169-73079219	AG04449	skin:	fetal
25	chr15:73079169-73079219	MCF-7	breast:	n/a
26	chr15:73079169-73079219	RPTEC	kidney:	n/a
27	chr15:73079169-73079219	HRCEpiC	kidney:	n/a
28	chr15:73079169-73079219	SK-N-SH	brain:	n/a
29	chr15:73079169-73079219	GM19239	blood:	n/a
30	chr15:73079169-73079219	HUVEC	blood vessel:	n/a
31	chr15:73079169-73079219	NHBE	bronchial:	n/a
32	chr15:73079169-73079219	H1-hESC	embryonic stem cell:	embryo
33	chr15:73079169-73079219	HRPEpiC	eye:	n/a
34	chr15:73079169-73079219	CMK	blood:	n/a
35	chr15:73079169-73079219	HAEpiC	amniotic membrane:	n/a
36	chr15:73079169-73079219	HCF	heart:	n/a
37	chr15:73079169-73079219	SK-N-MC	brain:	n/a
38	chr15:73079169-73079219	NH-A	brain:	n/a
39	chr15:73079169-73079219	BJ	skin:	n/a
40	chr15:73079169-73079219	NHDF-neo	bronchial:	n/a
41	chr15:73079169-73079219	PrEC	prostate:	n/a
42	chr15:73079169-73079219	AG09309	skin:	n/a
43	chr15:73079169-73079219	PFSK-1	brain:	n/a
44	chr15:73079169-73079219	HIPEpiC	eye:	n/a
45	chr15:73079169-73079219	AoSMC	blood vessel:	n/a
46	chr15:73079169-73079219	Hepatocyte	liver:	n/a
47	chr15:73079169-73079219	U87	brain:	n/a
48	chr15:73079169-73079219	NT2-D1	testis:	n/a
49	chr15:73079169-73079219	ovcar-3	ovarian:	n/a
50	chr15:73079169-73079219	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73078686..73082116-chr15:73085791..73087796,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BBS4-1	chr15:73078841-73079934	NONHSAT047128

No data

Variant related genes	Relation type
ADPGK	CpG island

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11072380	0.85[CHB][hapmap];0.96[CHD][hapmap]
rs11072383	0.85[CHB][hapmap];0.96[CHD][hapmap]
rs11072389	0.88[ASN][1000 genomes]
rs12437473	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12439200	0.93[CHB][hapmap];0.96[CHD][hapmap];0.88[ASN][1000 genomes]
rs12439473	0.88[ASN][1000 genomes]
rs12591690	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12591728	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12594320	0.96[CHD][hapmap];0.83[ASN][1000 genomes]
rs12898814	0.86[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12902361	0.82[EUR][1000 genomes]
rs12906007	0.85[CHB][hapmap]
rs12916236	0.87[ASN][1000 genomes]
rs12916448	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1346165	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16957257	0.82[EUR][1000 genomes]
rs2162268	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2304598	0.93[CHB][hapmap];0.87[ASN][1000 genomes]
rs28397892	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28562097	0.85[ASN][1000 genomes]
rs28648660	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28737436	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28801790	0.87[ASN][1000 genomes]
rs28827493	0.88[ASN][1000 genomes]
rs28866048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33923961	0.91[AMR][1000 genomes]
rs34660767	0.87[ASN][1000 genomes]
rs34940604	0.86[AMR][1000 genomes]
rs4777541	0.92[CHB][hapmap];0.88[ASN][1000 genomes]
rs6495017	1.00[ASN][1000 genomes]
rs6495018	0.89[CHD][hapmap]
rs7162166	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7170394	0.85[CHB][hapmap]
rs7172397	0.85[CHB][hapmap]
rs7182854	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8023358	0.93[CHB][hapmap];0.96[CHD][hapmap];0.82[ASN][1000 genomes]
rs8024644	0.82[ASN][1000 genomes]
rs8026286	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs8026559	0.85[CHB][hapmap];0.96[CHD][hapmap]
rs8031691	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8036269	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats 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 target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73077000-73079600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:73077000-73079600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:73077000-73080600	Enhancers	HSMMtube	muscle
4	chr15:73077000-73088800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:73077200-73079400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr15:73077200-73079400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr15:73077200-73079400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:73077200-73079600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:73077200-73079800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr15:73077200-73079800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:73077200-73079800	Enhancers	Brain Substantia Nigra	brain
12	chr15:73077200-73080000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:73077200-73080000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr15:73077200-73080000	Enhancers	GM12878-XiMat	blood
15	chr15:73077200-73080200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:73077200-73080400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:73077200-73080600	Enhancers	Brain Hippocampus Middle	brain
18	chr15:73077200-73081200	Enhancers	Fetal Brain Male	brain
19	chr15:73077400-73079600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr15:73077400-73079600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:73077400-73081400	Weak transcription	Spleen	Spleen
22	chr15:73077600-73080000	Enhancers	Brain Cingulate Gyrus	brain
23	chr15:73077800-73079400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr15:73077800-73080600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:73078200-73081200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr15:73078400-73079600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:73078400-73080400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:73078600-73080000	Enhancers	Brain Anterior Caudate	brain
29	chr15:73078600-73082000	Weak transcription	NHDF-Ad	bronchial
30	chr15:73078600-73082200	Weak transcription	Osteobl	bone
31	chr15:73078600-73082400	Weak transcription	NH-A	brain
32	chr15:73078800-73079400	Flanking Active TSS	HepG2	liver
33	chr15:73079000-73079400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:73079000-73080000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:73079000-73080600	Enhancers	Fetal Brain Female	brain
36	chr15:73079000-73082400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:73079200-73079800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:73079200-73082200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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