Variant report

Variant	rs2337167
Chromosome Location	chr15:30016599-30016600
allele	A/G
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	ZMIZ1	chr15:30016519-30016713	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:30014884..30018559-chr15:30110682..30116095,4	K562	blood:
2	chr15:30015797..30018327-chr15:30112866..30114621,2	K562	blood:

Variant related genes	Relation type
TJP1	TF binding region
ENSG00000259523	Chromatin interaction
ENSG00000104067	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10152681	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10775231	0.89[CEU][hapmap]
rs11073205	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11073218	0.90[JPT][hapmap]
rs11632848	0.81[ASN][1000 genomes]
rs12438925	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383315	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1480503	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1552077	0.83[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1585900	0.89[CEU][hapmap]
rs1679647	0.98[ASN][1000 genomes]
rs17750802	0.89[CHB][hapmap]
rs1871678	0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2032	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2229518	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306437	0.89[CHB][hapmap]
rs260528	0.87[ASN][1000 genomes]
rs260529	0.87[ASN][1000 genomes]
rs260531	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs260532	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs260533	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs260534	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs260535	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs260538	0.90[ASN][1000 genomes]
rs28675809	0.81[ASN][1000 genomes]
rs2878893	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2878905	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3809503	0.89[CHB][hapmap]
rs4073316	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4362339	0.83[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[ASN][1000 genomes]
rs4779670	0.84[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4780258	0.87[ASN][1000 genomes]
rs4780259	0.89[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4780260	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs6495890	0.82[EUR][1000 genomes]
rs6495914	0.87[ASN][1000 genomes]
rs6495927	0.84[ASN][1000 genomes]
rs6495935	0.84[ASN][1000 genomes]
rs6495945	0.89[CEU][hapmap]
rs7168919	0.83[CEU][hapmap]
rs7170406	0.89[CEU][hapmap]
rs7171815	0.84[ASN][1000 genomes]
rs7176476	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7176594	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7180387	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs767514	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs8027827	0.80[ASN][1000 genomes]

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	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	nsv832944	chr15:29861062-30082057	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	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
8	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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:29989600-30021200	Strong transcription	Duodenum Smooth Muscle	Duodenum
2	chr15:29989600-30027200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr15:29990000-30016600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:29990200-30028400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:29990400-30026400	Strong transcription	Stomach Smooth Muscle	stomach
6	chr15:29991200-30020200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:29991200-30022400	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr15:29992000-30026600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:29993200-30019600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:29996200-30021400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:30005000-30023000	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr15:30005400-30022800	Strong transcription	HSMMtube	muscle
13	chr15:30006800-30018200	Strong transcription	Colon Smooth Muscle	Colon
14	chr15:30007200-30016600	Strong transcription	Right Ventricle	heart
15	chr15:30007200-30021400	Strong transcription	Fetal Kidney	kidney
16	chr15:30007200-30021400	Strong transcription	NHLF	lung
17	chr15:30010200-30018600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr15:30013200-30016600	ZNF genes & repeats	A549	lung
19	chr15:30013400-30017600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:30013600-30016600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:30013600-30018400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:30014000-30016600	ZNF genes & repeats	Brain Germinal Matrix	brain
23	chr15:30014000-30016600	ZNF genes & repeats	Fetal Brain Female	brain
24	chr15:30014000-30016600	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr15:30014200-30016600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:30014200-30016600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
27	chr15:30014200-30016600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:30014200-30016800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr15:30014200-30017600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr15:30014200-30017600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr15:30014400-30016600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
32	chr15:30014400-30016600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr15:30014400-30016600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
34	chr15:30014400-30016600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
35	chr15:30014400-30016600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr15:30014400-30016600	ZNF genes & repeats	Fetal Brain Male	brain
37	chr15:30014400-30016600	ZNF genes & repeats	Lung	lung
38	chr15:30014400-30016600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
39	chr15:30014400-30016600	ZNF genes & repeats	Spleen	Spleen
40	chr15:30014400-30016800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:30014400-30017000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
42	chr15:30014400-30017400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
43	chr15:30014600-30016600	ZNF genes & repeats	HSMM	muscle
44	chr15:30014800-30016800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
45	chr15:30014800-30017200	Strong transcription	Fetal Heart	heart
46	chr15:30014800-30021200	Strong transcription	HMEC	breast
47	chr15:30014800-30028400	Strong transcription	NHEK	skin
48	chr15:30015000-30018800	Strong transcription	Brain Substantia Nigra	brain
49	chr15:30015000-30018800	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr15:30015000-30021600	Strong transcription	Brain Angular Gyrus	brain

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