Variant report

Variant	rs7167392
Chromosome Location	chr15:43028592-43028593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr15:43028531-43029595	GM12892	blood:	n/a	chr15:43029333-43029342
2	MAZ	chr15:43028439-43029644	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:43027826-43029760	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:43028591-43028863	K562	blood:	n/a	n/a
5	POLR2A	chr15:43028459-43028685	A549	lung:	n/a	n/a
6	SIN3AK20	chr15:43028479-43028845	K562	blood:	n/a	n/a
7	MAZ	chr15:43028138-43029884	IMR90	lung:	n/a	n/a
8	ZBTB7A	chr15:43028586-43029316	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr15:43028511-43030037	K562	blood:	n/a	n/a
10	EGR1	chr15:43028550-43028854	K562	blood:	n/a	n/a
11	POLR2A	chr15:43028145-43028637	HepG2	liver:	n/a	n/a
12	MAX	chr15:43028552-43028900	K562	blood:	n/a	n/a
13	SIN3A	chr15:43028346-43029681	H1-hESC	embryonic stem cell:	n/a	chr15:43029073-43029086
14	YY1	chr15:43028392-43029668	K562	blood:	n/a	chr15:43029069-43029083 chr15:43029075-43029089
15	POLR2A	chr15:43028551-43029785	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr15:43028582-43029719	Raji	blood:	n/a	n/a
17	POLR2A	chr15:43028524-43029818	GM12892	blood:	n/a	n/a
18	POLR2A	chr15:43028069-43029712	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:43028373-43029710	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr15:43028085-43029764	K562	blood:	n/a	n/a
21	JUND	chr15:43028574-43028634	K562	blood:	n/a	n/a
22	POLR2A	chr15:43028558-43029730	NB4	blood:	n/a	n/a
23	HCFC1	chr15:43028462-43030484	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr15:43027862-43029754	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr15:43027827-43029802	Hela-S3	cervix:	n/a	n/a
26	UBTF	chr15:43028471-43029696	K562	blood:	n/a	n/a
27	POLR2A	chr15:43028280-43029914	H1-hESC	embryonic stem cell:	n/a	n/a
28	CCNT2	chr15:43028482-43029698	K562	blood:	n/a	n/a
29	UBTF	chr15:43028408-43029723	K562	blood:	n/a	n/a
30	POLR2A	chr15:43028489-43029714	GM18505	blood:	n/a	n/a
31	POLR2A	chr15:43028533-43029706	GM18951	blood:	n/a	n/a
32	SMARCB1	chr15:43028469-43029713	Hela-S3	cervix:	n/a	n/a
33	MXI1	chr15:43028171-43030086	IMR90	lung:	n/a	n/a
34	POLR2A	chr15:43028336-43028734	K562	blood:	n/a	n/a
35	MAZ	chr15:43028502-43029839	K562	blood:	n/a	n/a
36	HMGN3	chr15:43028437-43029702	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43014319..43018768-chr15:43027782..43030873,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000246283	TF binding region
ENSG00000140326	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10162939	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs10400824	0.84[EUR][1000 genomes]
rs10518779	1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap]
rs1197550	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs1197551	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs12102055	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs12905385	0.85[CEU][hapmap];0.82[GIH][hapmap];0.83[LWK][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12906497	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12912064	0.84[EUR][1000 genomes]
rs12914570	0.80[CEU][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap]
rs12917018	0.95[CEU][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes]
rs12917189	0.85[CEU][hapmap]
rs13329197	0.88[ASN][1000 genomes]
rs16957020	0.93[GIH][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs16957091	0.95[CEU][hapmap];0.85[TSI][hapmap];0.92[EUR][1000 genomes]
rs16957104	0.90[EUR][1000 genomes]
rs16957168	0.81[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.82[YRI][hapmap];0.97[ASN][1000 genomes]
rs1705356	0.80[CEU][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap]
rs1915241	0.92[EUR][1000 genomes]
rs1995939	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs2136899	0.80[CEU][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs2136900	0.90[CEU][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2175370	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2280048	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs2305084	1.00[CEU][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2305085	0.89[CEU][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2412740	0.88[EUR][1000 genomes]
rs2412741	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs28498538	0.87[ASN][1000 genomes]
rs28549876	0.94[EUR][1000 genomes]
rs28562951	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28620320	0.97[ASN][1000 genomes]
rs28744617	0.86[ASN][1000 genomes]
rs28798437	0.84[EUR][1000 genomes]
rs28811114	0.84[EUR][1000 genomes]
rs28823029	0.84[EUR][1000 genomes]
rs3099758	0.80[CEU][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap]
rs3199486	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs3742987	0.89[CEU][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes]
rs3742988	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs3742993	0.93[GIH][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs4265781	0.94[EUR][1000 genomes]
rs4924690	0.80[CEU][hapmap]
rs4924691	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs4924694	0.93[GIH][hapmap];0.83[MEX][hapmap]
rs4994112	0.90[CEU][hapmap]
rs623271	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs6493059	0.80[CEU][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6493062	0.82[EUR][1000 genomes]
rs6493063	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6493066	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66681258	0.83[EUR][1000 genomes]
rs672054	0.81[JPT][hapmap]
rs67391479	0.82[EUR][1000 genomes]
rs7163030	0.81[EUR][1000 genomes]
rs7166632	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7166775	0.90[CEU][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs7169009	0.95[CEU][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes]
rs7169202	0.81[EUR][1000 genomes]
rs7174041	0.84[CEU][hapmap]
rs7175582	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7176860	0.88[ASN][1000 genomes]
rs7182141	0.81[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7182515	0.90[CHD][hapmap];0.90[JPT][hapmap]
rs731984	0.85[CEU][hapmap]
rs8023524	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs8024902	0.81[JPT][hapmap]
rs8026233	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs8027427	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs8028785	0.87[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.85[YRI][hapmap]
rs8031218	0.83[MEX][hapmap]
rs8034447	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs8034664	0.88[EUR][1000 genomes]
rs8039711	0.81[JPT][hapmap]
rs8039765	0.81[JPT][hapmap];0.83[MEX][hapmap]
rs8043472	0.80[CEU][hapmap]
rs9269	0.81[ASW][hapmap];0.90[CEU][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs938047	0.81[JPT][hapmap]
rs9783713	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9919994	0.85[CEU][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9920163	0.80[CEU][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs9920182	0.92[MEX][hapmap];0.85[MKK][hapmap]
rs9920202	1.00[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
3	nsv457122	chr15:42948862-43062548	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv569238	chr15:42948862-43062548	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv977054	chr15:43015821-43171355	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	esv3410012	chr15:43027685-43030233	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv3344912	chr15:43028085-43030633	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7167392	CHAC1	cis	parietal	SCAN
rs7167392	SPTBN5	cis	cerebellum	SCAN
rs7167392	CDAN1	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43027600-43028600	Flanking Active TSS	Colon Smooth Muscle	Colon
2	chr15:43027800-43028600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr15:43027800-43028600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:43027800-43028600	Flanking Active TSS	Hela-S3	cervix
5	chr15:43027800-43028800	Enhancers	Stomach Mucosa	stomach
6	chr15:43028000-43028600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:43028000-43028600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:43028000-43028600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:43028000-43028600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:43028000-43028600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:43028000-43028600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr15:43028000-43028600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr15:43028000-43028600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr15:43028000-43028600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr15:43028000-43028600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr15:43028000-43028600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:43028000-43028600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:43028000-43028600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:43028000-43028600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:43028000-43028600	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr15:43028000-43028600	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr15:43028000-43028600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr15:43028000-43028600	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr15:43028000-43028600	Flanking Active TSS	Colonic Mucosa	Colon
25	chr15:43028000-43028600	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr15:43028000-43028600	Flanking Active TSS	Fetal Intestine Large	intestine
27	chr15:43028000-43028600	Flanking Active TSS	Placenta	Placenta
28	chr15:43028000-43028600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
29	chr15:43028000-43028600	Flanking Active TSS	Pancreas	Pancrea
30	chr15:43028000-43028600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr15:43028000-43028600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr15:43028000-43028600	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr15:43028000-43028600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr15:43028000-43028600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr15:43028000-43028600	Flanking Active TSS	GM12878-XiMat	blood
36	chr15:43028000-43028600	Flanking Active TSS	HepG2	liver
37	chr15:43028000-43028600	Flanking Active TSS	HUVEC	blood vessel
38	chr15:43028000-43028600	Flanking Active TSS	K562	blood
39	chr15:43028000-43028600	Flanking Active TSS	NHEK	skin
40	chr15:43028000-43028800	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr15:43028000-43028800	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr15:43028000-43028800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr15:43028000-43029800	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr15:43028000-43030000	Active TSS	H9 Cell Line	embryonic stem cell
45	chr15:43028000-43030000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr15:43028000-43030000	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr15:43028200-43028600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr15:43028200-43028600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:43028200-43028600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:43028200-43028600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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