Variant report

Variant	rs28730874
Chromosome Location	chr7:124406624-124406625
allele	C/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	NRF1	chr7:124405098-124406798	SK-N-SH	brain:	n/a	chr7:124406375-124406386 chr7:124406375-124406389
2	SIN3A	chr7:124404035-124406665	H1-hESC	embryonic stem cell:	n/a	chr7:124405955-124405968

Variant related genes	Relation type
GPR37	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1008290	0.82[ASN][1000 genomes]
rs10230948	0.86[ASN][1000 genomes]
rs10234698	0.88[ASN][1000 genomes]
rs10241745	0.86[ASN][1000 genomes]
rs10268290	0.83[ASN][1000 genomes]
rs10280030	0.86[ASN][1000 genomes]
rs1034794	0.86[ASN][1000 genomes]
rs1034795	0.86[ASN][1000 genomes]
rs11772420	0.84[ASN][1000 genomes]
rs12532038	0.85[ASN][1000 genomes]
rs12534967	0.86[ASN][1000 genomes]
rs13222197	0.80[ASN][1000 genomes]
rs1541417	0.86[ASN][1000 genomes]
rs17147465	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2158676	0.82[ASN][1000 genomes]
rs2299904	0.86[ASN][1000 genomes]
rs2402754	0.86[ASN][1000 genomes]
rs2896357	0.82[ASN][1000 genomes]
rs34326887	0.84[ASN][1000 genomes]
rs35550222	0.83[ASN][1000 genomes]
rs4141073	0.86[ASN][1000 genomes]
rs4141075	0.97[ASN][1000 genomes]
rs4577901	0.82[ASN][1000 genomes]
rs4639456	0.97[ASN][1000 genomes]
rs4728005	0.97[ASN][1000 genomes]
rs4728007	0.86[ASN][1000 genomes]
rs4731210	0.89[ASN][1000 genomes]
rs62480274	0.80[ASN][1000 genomes]
rs6466951	0.85[ASN][1000 genomes]
rs6943703	0.84[ASN][1000 genomes]
rs6943797	0.86[ASN][1000 genomes]
rs6963885	0.86[ASN][1000 genomes]
rs6968018	0.86[ASN][1000 genomes]
rs6977430	0.82[ASN][1000 genomes]
rs716991	0.89[ASN][1000 genomes]
rs717241	0.83[ASN][1000 genomes]
rs73443822	0.80[ASN][1000 genomes]
rs7782296	0.86[ASN][1000 genomes]
rs7782351	0.82[ASN][1000 genomes]
rs7784168	0.84[ASN][1000 genomes]
rs7787804	0.86[ASN][1000 genomes]
rs7794637	0.85[ASN][1000 genomes]
rs7795610	0.86[ASN][1000 genomes]
rs7796751	0.86[ASN][1000 genomes]
rs9641745	0.82[ASN][1000 genomes]
rs9656320	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3409218	chr7:124405141-124407689	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	esv3329449	chr7:124405416-124407539	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124393600-124406800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr7:124398400-124406800	Active TSS	Brain Cingulate Gyrus	brain
3	chr7:124399600-124406800	Active TSS	Brain Anterior Caudate	brain
4	chr7:124400600-124406800	Active TSS	Brain Angular Gyrus	brain
5	chr7:124401800-124406800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:124402200-124406800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:124402400-124406800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr7:124404600-124406800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr7:124405200-124406800	Active TSS	Fetal Brain Male	brain
10	chr7:124405200-124406800	Active TSS	Hela-S3	cervix
11	chr7:124405600-124406800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:124405600-124406800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:124405600-124406800	Active TSS	Fetal Lung	lung
14	chr7:124405800-124406800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr7:124405800-124406800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:124405800-124406800	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:124405800-124406800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:124406000-124406800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:124406000-124406800	Active TSS	Brain Hippocampus Middle	brain
20	chr7:124406000-124406800	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr7:124406200-124406800	Active TSS	Brain Germinal Matrix	brain
22	chr7:124406200-124406800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
23	chr7:124406200-124410800	Weak transcription	HUVEC	blood vessel
24	chr7:124406400-124406800	Flanking Active TSS	Fetal Brain Female	brain
25	chr7:124406400-124406800	Enhancers	Placenta	Placenta
26	chr7:124406600-124406800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr7:124406600-124406800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
28	chr7:124406600-124406800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:124406600-124406800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:124406600-124406800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr7:124406600-124406800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr7:124406600-124406800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr7:124406600-124406800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr7:124406600-124406800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:124406600-124406800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:124406600-124406800	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr7:124406600-124406800	Flanking Active TSS	NHEK	skin

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