Variant report

Variant	rs2526328
Chromosome Location	chr17:34259352-34259353
allele	G/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	POLR2A	chr17:34257212-34259498	K562	blood:	n/a	n/a
2	RCOR1	chr17:34259099-34259353	K562	blood:	n/a	n/a
3	NFYB	chr17:34259128-34259367	K562	blood:	n/a	n/a
4	JUND	chr17:34258990-34259475	K562	blood:	n/a	n/a
5	JUN	chr17:34258755-34259387	K562	blood:	n/a	n/a

Variant related genes	Relation type
RDM1	TF binding region

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs11080360	0.87[ASN][1000 genomes]
rs11080361	0.87[ASN][1000 genomes]
rs11080362	0.87[ASN][1000 genomes]
rs11650409	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11652536	0.87[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs11653016	0.87[ASN][1000 genomes]
rs11653051	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11653204	0.86[ASN][1000 genomes]
rs11654713	0.90[ASN][1000 genomes]
rs11655533	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11656556	0.86[ASN][1000 genomes]
rs11657908	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11868801	0.87[ASN][1000 genomes]
rs11869976	0.87[ASN][1000 genomes]
rs16971670	0.87[ASN][1000 genomes]
rs2107538	0.85[EUR][1000 genomes]
rs2107540	0.86[ASN][1000 genomes]
rs2251660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2280787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2376287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2526327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2702947	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2702948	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2735475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28550999	0.87[ASN][1000 genomes]
rs28722787	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28739295	0.86[ASN][1000 genomes]
rs28912068	0.83[ASN][1000 genomes]
rs34369685	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3760447	0.83[ASN][1000 genomes]
rs3809769	0.87[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs3817655	0.82[EUR][1000 genomes]
rs4251751	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs4251752	0.87[CHB][hapmap];0.93[JPT][hapmap]
rs4795089	0.85[JPT][hapmap]
rs4795095	0.87[CHB][hapmap];0.93[JPT][hapmap]
rs4795099	0.82[ASN][1000 genomes]
rs4795100	0.87[ASN][1000 genomes]
rs4795101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4796107	0.85[JPT][hapmap]
rs4796108	0.93[JPT][hapmap]
rs4796112	0.87[CHB][hapmap];0.93[JPT][hapmap]
rs4796114	0.91[JPT][hapmap]
rs4796115	0.87[CHB][hapmap];0.93[JPT][hapmap]
rs4796118	0.93[JPT][hapmap]
rs4796119	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs4796120	0.87[CHB][hapmap];0.93[JPT][hapmap]
rs4796123	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs4796124	0.86[ASN][1000 genomes]
rs4796125	0.86[ASN][1000 genomes]
rs4796126	0.84[ASN][1000 genomes]
rs4796127	0.86[ASN][1000 genomes]
rs4796128	0.87[EUR][1000 genomes]
rs4796130	0.87[ASN][1000 genomes]
rs4796131	0.87[ASN][1000 genomes]
rs4796133	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4796134	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4796136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4796137	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4796138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56294660	0.87[ASN][1000 genomes]
rs56344830	0.84[ASN][1000 genomes]
rs59338510	0.86[ASN][1000 genomes]
rs7211393	0.85[EUR][1000 genomes]
rs7213636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7215845	0.87[EUR][1000 genomes]
rs8066406	0.88[EUR][1000 genomes]
rs9303691	0.87[CHB][hapmap];0.93[JPT][hapmap]
rs9303693	0.87[ASN][1000 genomes]
rs9754	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9789051	0.86[ASN][1000 genomes]
rs9889274	0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs9889977	0.87[ASN][1000 genomes]
rs9890583	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9891064	0.87[ASN][1000 genomes]
rs9893004	0.87[ASN][1000 genomes]
rs9894314	0.87[ASN][1000 genomes]
rs9894799	0.87[ASN][1000 genomes]
rs9896265	0.86[ASN][1000 genomes]
rs9896658	0.87[ASN][1000 genomes]
rs9897665	0.87[ASN][1000 genomes]
rs9898132	0.87[CHB][hapmap];0.93[JPT][hapmap]
rs9898152	0.87[CHB][hapmap];0.93[JPT][hapmap]
rs9899215	0.87[ASN][1000 genomes]
rs9899866	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9899870	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9899881	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9900236	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9901195	0.87[ASN][1000 genomes]
rs9901418	0.87[ASN][1000 genomes]
rs9903590	0.87[ASN][1000 genomes]
rs9904675	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9907145	0.87[ASN][1000 genomes]
rs9907295	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9908011	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9908525	0.87[ASN][1000 genomes]
rs9909050	0.87[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs9911016	0.87[ASN][1000 genomes]
rs9912049	0.87[ASN][1000 genomes]
rs9912284	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9912571	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9912793	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9912894	0.87[ASN][1000 genomes]
rs9913488	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9913559	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9914401	0.87[CHB][hapmap];0.93[JPT][hapmap]
rs9914468	0.87[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	esv3380735	chr17:34246253-34271932	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1063100	chr17:34246253-34397598	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv833424	chr17:34246253-34419476	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1056950	chr17:34246253-34442620	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1059795	chr17:34246253-34442620	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1060457	chr17:34246253-34442620	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv543320	chr17:34246253-34442620	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv949160	chr17:34246253-34442620	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised 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	24 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	chr17:34257800-34259400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:34257800-34264000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:34257800-34266200	Weak transcription	Aorta	Aorta
4	chr17:34258000-34259400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr17:34258000-34259800	Enhancers	Brain Germinal Matrix	brain
6	chr17:34258000-34259800	Enhancers	Fetal Intestine Small	intestine
7	chr17:34258000-34259800	Enhancers	Fetal Muscle Leg	muscle
8	chr17:34258000-34260000	Enhancers	Adipose Nuclei	Adipose
9	chr17:34258000-34260200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr17:34258000-34260400	Enhancers	Fetal Muscle Trunk	muscle
11	chr17:34258000-34260400	Enhancers	Fetal Stomach	stomach
12	chr17:34258000-34273800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:34258200-34259400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr17:34258200-34259400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr17:34258200-34259400	Enhancers	NHLF	lung
16	chr17:34258200-34259800	Enhancers	Fetal Lung	lung
17	chr17:34258200-34260000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:34258200-34260000	Enhancers	Fetal Heart	heart
19	chr17:34258200-34260000	Enhancers	Fetal Kidney	kidney
20	chr17:34258200-34260200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:34258200-34260200	Enhancers	Osteobl	bone
22	chr17:34258400-34259400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:34258400-34259400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr17:34258400-34259400	Enhancers	Fetal Brain Female	brain
25	chr17:34258400-34260000	Enhancers	K562	blood
26	chr17:34258400-34263400	Weak transcription	Fetal Intestine Large	intestine
27	chr17:34258600-34259400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr17:34258600-34259400	Enhancers	Left Ventricle	heart
29	chr17:34258800-34259800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr17:34259000-34259400	Enhancers	Ovary	ovary
31	chr17:34259000-34259600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr17:34259000-34259800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:34259000-34259800	Enhancers	Stomach Smooth Muscle	stomach
34	chr17:34259200-34259400	Enhancers	Placenta	Placenta
35	chr17:34259200-34259400	Enhancers	Right Ventricle	heart
36	chr17:34259200-34259600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr17:34259200-34259600	Enhancers	Right Atrium	heart
38	chr17:34259200-34259800	Enhancers	NHDF-Ad	bronchial

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