Variant report

Variant	rs2032
Chromosome Location	chr15:30112479-30112480
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr15:30112224-30113250	H1-hESC	embryonic stem cell:	n/a	chr15:30112448-30112459 chr15:30112444-30112460 chr15:30112447-30112461 chr15:30112448-30112459
2	CHD1	chr15:30111618-30116068	IMR90	lung:	n/a	n/a
3	TBL1XR1	chr15:30111917-30113923	K562	blood:	n/a	n/a
4	POLR2A	chr15:30111823-30115673	MCF10A-Er-Src	breast:	n/a	n/a
5	BACH1	chr15:30112449-30113905	K562	blood:	n/a	n/a
6	POLR2A	chr15:30112432-30112493	H1-hESC	embryonic stem cell:	n/a	n/a
7	STAT3	chr15:30112215-30113222	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr15:30112253-30115535	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZNF384	chr15:30112140-30112793	K562	blood:	n/a	n/a
10	POLR2A	chr15:30112227-30115007	K562	blood:	n/a	n/a
11	JUN	chr15:30112361-30113899	K562	blood:	n/a	n/a
12	POLR2A	chr15:30112372-30112679	MCF10A-Er-Src	breast:	n/a	n/a
13	IRF1	chr15:30111842-30113921	K562	blood:	n/a	chr15:30113129-30113136 chr15:30113899-30113913 chr15:30113737-30113751
14	ELK1	chr15:30112190-30112655	K562	blood:	n/a	n/a
15	RFX5	chr15:30111810-30113015	K562	blood:	n/a	n/a
16	IRF1	chr15:30111580-30113934	K562	blood:	n/a	chr15:30113129-30113136 chr15:30113899-30113913 chr15:30113737-30113751
17	MXI1	chr15:30112187-30115713	SK-N-SH	brain:	n/a	n/a
18	CHD1	chr15:30111661-30114675	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr15:30112173-30115976	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:30111283..30113750-chr22:19879705..19881456,2	K562	blood:
2	chr15:30051900..30054307-chr15:30111477..30113324,2	K562	blood:

Variant related genes	Relation type
ENSG00000259523	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10152681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10775231	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11073205	0.88[EUR][1000 genomes]
rs11073218	0.90[JPT][hapmap]
rs11636849	0.82[CEU][hapmap]
rs12438925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12440211	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12440708	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12441554	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1383315	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1480503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1552077	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1585900	1.00[CEU][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17750802	0.89[CHB][hapmap]
rs2229518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2306437	0.89[CHB][hapmap]
rs2337167	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs260531	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs260532	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs260533	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs260534	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs260535	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs28675809	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2878893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2878905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3809503	0.89[CHB][hapmap]
rs4073316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4362339	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4779670	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4780259	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4780260	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4780263	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6495890	0.86[EUR][1000 genomes]
rs6495914	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6495927	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6495935	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6495945	1.00[CEU][hapmap];0.80[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7166786	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7168919	0.94[CEU][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7170406	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7171815	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7175819	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7176476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7176594	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7180387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs767514	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs785445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8023974	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8027827	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456736	chr15:29327352-30208654	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv568675	chr15:29327352-30208654	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv832945	chr15:29932599-30123721	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv2422463	chr15:30003189-30215336	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv1851951	chr15:30043659-30178871	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv1845759	chr15:30097078-30142373	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv827275	chr15:30110266-30115636	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30082400-30113600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:30107200-30112600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:30108200-30113000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:30108400-30112800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:30108400-30113000	Weak transcription	Esophagus	oesophagus
6	chr15:30108600-30112600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:30108600-30113600	Weak transcription	Pancreas	Pancrea
8	chr15:30108800-30112800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:30108800-30112800	Weak transcription	Stomach Mucosa	stomach
10	chr15:30110400-30115400	Active TSS	Right Atrium	heart
11	chr15:30111000-30112600	Enhancers	Brain Substantia Nigra	brain
12	chr15:30111200-30113000	Weak transcription	Lung	lung
13	chr15:30111200-30113600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:30111400-30115000	Active TSS	NHLF	lung
15	chr15:30111400-30115600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:30111600-30112600	Active TSS	Adipose Nuclei	Adipose
17	chr15:30111600-30112600	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr15:30111600-30112800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:30111600-30112800	Flanking Active TSS	Fetal Kidney	kidney
20	chr15:30111600-30113000	Flanking Active TSS	HUVEC	blood vessel
21	chr15:30111600-30113200	Active TSS	Duodenum Mucosa	Duodenum
22	chr15:30111600-30114400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr15:30111600-30115000	Active TSS	Fetal Muscle Leg	muscle
24	chr15:30111600-30115000	Active TSS	HSMM	muscle
25	chr15:30111600-30115000	Active TSS	K562	blood
26	chr15:30111600-30115000	Active TSS	NH-A	brain
27	chr15:30111600-30115200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:30111600-30115200	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr15:30111600-30115200	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr15:30111600-30115200	Active TSS	Right Ventricle	heart
31	chr15:30111600-30115400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:30111600-30115400	Active TSS	Psoas Muscle	Psoas
33	chr15:30111600-30115400	Active TSS	Stomach Smooth Muscle	stomach
34	chr15:30111800-30112600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr15:30111800-30113000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr15:30111800-30113000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:30111800-30113200	Flanking Active TSS	Liver	Liver
38	chr15:30111800-30113200	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr15:30111800-30114800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:30111800-30115200	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr15:30111800-30115200	Active TSS	Colon Smooth Muscle	Colon
42	chr15:30111800-30115200	Active TSS	HSMMtube	muscle
43	chr15:30111800-30115400	Active TSS	Aorta	Aorta
44	chr15:30111800-30115600	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr15:30111800-30115600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr15:30112000-30112600	Enhancers	Brain Germinal Matrix	brain
47	chr15:30112000-30112800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr15:30112000-30113000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:30112000-30113000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:30112000-30113000	Flanking Active TSS	NHEK	skin

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