Variant report

Variant	rs73387633
Chromosome Location	chr15:35047364-35047365
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	TAF1	chr15:35047063-35047434	H1-neurons	neurons:	n/a	n/a
2	CTCF	chr15:35047360-35047510	SK-N-SH_RA	brain:	n/a	n/a
3	RAD21	chr15:35046852-35047651	H1-hESC	embryonic stem cell:	n/a	chr15:35047076-35047086
4	POLR2A	chr15:35046486-35047827	H1-neurons	neurons:	n/a	n/a
5	TAF1	chr15:35047001-35047395	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr15:35047001-35047516	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr15:35047318-35047481	H1-hESC	embryonic stem cell:	n/a	n/a
8	CREB1	chr15:35047047-35047477	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr15:35047315-35047794	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTBP2	chr15:35046342-35047773	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr15:35047240-35047390	WERI-Rb-1	eye:	n/a	n/a
12	REST	chr15:35046154-35047785	H1-neurons	neurons:	n/a	chr15:35046941-35046961 chr15:35047465-35047475 chr15:35046723-35046737
13	RAD21	chr15:35047006-35047564	H1-hESC	embryonic stem cell:	n/a	chr15:35047076-35047086
14	HMGN3	chr15:35047042-35047392	K562	blood:	n/a	n/a
15	CTCF	chr15:35047181-35047523	H1-hESC	embryonic stem cell:	n/a	n/a
16	SIN3A	chr15:35046397-35047778	H1-hESC	embryonic stem cell:	n/a	chr15:35046941-35046954 chr15:35047262-35047273
17	RAD21	chr15:35047132-35047563	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr15:35047260-35047410	SAEC	small airway:	n/a	n/a
19	CREB1	chr15:35047000-35047547	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr15:35046487-35047923	H1-neurons	neurons:	n/a	n/a
21	SUZ12	chr15:35046263-35048723	NT2-D1	testis:	n/a	n/a
22	ZNF143	chr15:35046962-35047725	H1-hESC	embryonic stem cell:	n/a	chr15:35046973-35046991

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC114546.1-3	chr15:35047285-35047422	ENSG00000250007
2	lnc-AC114546.1-3	chr15:35047363-35047422	ENSG00000250007.2

Variant related genes	Relation type
GJD2	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10451003	1.00[AMR][1000 genomes]
rs16959971	1.00[AMR][1000 genomes]
rs16959977	1.00[AMR][1000 genomes]
rs16959984	1.00[AMR][1000 genomes]
rs57197192	1.00[AMR][1000 genomes]
rs59072667	1.00[AMR][1000 genomes]
rs7178063	1.00[AMR][1000 genomes]
rs8033978	1.00[AMR][1000 genomes]
rs8035082	1.00[AMR][1000 genomes]
rs9806719	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350109	chr15:34668106-35534229	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv569133	chr15:34881304-35142566	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv522411	chr15:34953986-35462981	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35043600-35048800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr15:35046200-35047400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
3	chr15:35046200-35047600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr15:35046200-35047600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:35046200-35047800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
6	chr15:35046200-35047800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
7	chr15:35046200-35048000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr15:35046200-35048000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr15:35046200-35048000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr15:35046200-35048200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr15:35046200-35048200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr15:35046200-35048200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr15:35046200-35048400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:35046400-35047400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:35046400-35047400	Bivalent Enhancer	Fetal Brain Male	brain
16	chr15:35046400-35047800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
17	chr15:35046400-35047800	Bivalent/Poised TSS	HSMM	muscle
18	chr15:35046400-35048000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr15:35046400-35048000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr15:35046400-35048000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:35046600-35047400	Flanking Active TSS	Right Ventricle	heart
22	chr15:35046600-35047600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:35046600-35047800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:35046600-35047800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:35046600-35047800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:35046600-35047800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
27	chr15:35046600-35047800	Active TSS	Right Atrium	heart
28	chr15:35046600-35048400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
29	chr15:35046800-35047400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
30	chr15:35046800-35047400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:35046800-35047400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:35046800-35047400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:35046800-35047400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:35046800-35047400	Bivalent/Poised TSS	NHEK	skin
35	chr15:35046800-35047600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:35046800-35047600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
37	chr15:35046800-35047600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:35046800-35047600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:35046800-35047600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:35046800-35047600	Bivalent/Poised TSS	Aorta	Aorta
41	chr15:35046800-35047600	Flanking Bivalent TSS/Enh	Left Ventricle	heart
42	chr15:35046800-35047600	Bivalent/Poised TSS	A549	lung
43	chr15:35047000-35047400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr15:35047000-35047400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:35047000-35047400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:35047000-35047400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr15:35047000-35047400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:35047000-35047400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr15:35047000-35047400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
50	chr15:35047000-35047400	Bivalent/Poised TSS	Brain Germinal Matrix	brain

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