Variant report

Variant	rs8180838
Chromosome Location	chr7:39125174-39125175
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	REST	chr7:39125010-39125691	H1-neurons	neurons:	n/a	n/a
2	JUND	chr7:39125151-39125538	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr7:39124858-39125903	H1-neurons	neurons:	n/a	n/a
4	KAP1	chr7:39125014-39125688	HEK293	kidney:	n/a	n/a
5	KAP1	chr7:39125121-39125695	U2OS	brain:	n/a	n/a
6	POLR2A	chr7:39125036-39125856	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr7:39125059-39125701	H1-neurons	neurons:	n/a	n/a
8	ZNF263	chr7:39124956-39125691	HEK293-T-REx	kidney:	n/a	chr7:39125416-39125437 chr7:39125378-39125399

Variant related genes	Relation type
POU6F2	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11760350	0.85[JPT][hapmap]
rs11761291	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs11761423	0.87[CEU][hapmap];0.86[CHB][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11761599	0.81[CEU][hapmap]
rs11762823	0.85[JPT][hapmap]
rs11767715	0.93[CEU][hapmap];0.85[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11769233	0.87[CEU][hapmap];0.86[CHB][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11770037	0.85[JPT][hapmap]
rs11770808	0.93[CEU][hapmap]
rs11773404	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1358003	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1404998	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs1525791	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1525792	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs16870180	0.83[EUR][1000 genomes]
rs17171546	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs17255994	0.86[CHB][hapmap]
rs2103194	0.83[EUR][1000 genomes]
rs4442034	0.85[JPT][hapmap]
rs61550119	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62442180	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62442188	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62442189	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62442206	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62442233	0.83[EUR][1000 genomes]
rs62442235	0.83[EUR][1000 genomes]
rs62442236	0.83[EUR][1000 genomes]
rs62442237	0.83[EUR][1000 genomes]
rs723969	0.86[CHB][hapmap]
rs73120491	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024142	chr7:38978728-39300444	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv887968	chr7:39123165-39198960	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr7:39115600-39125200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:39123800-39126600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:39124400-39125200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:39124400-39125200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:39124400-39125800	Active TSS	Brain Cingulate Gyrus	brain
6	chr7:39124600-39125200	Flanking Active TSS	Fetal Brain Female	brain
7	chr7:39124600-39125400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
8	chr7:39124600-39125400	Enhancers	Fetal Heart	heart
9	chr7:39124600-39126000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:39124800-39125200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr7:39124800-39125200	Active TSS	Brain Anterior Caudate	brain
12	chr7:39124800-39125200	Active TSS	Psoas Muscle	Psoas
13	chr7:39124800-39125400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:39124800-39125600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:39124800-39125600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr7:39124800-39126000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:39124800-39126400	Active TSS	Right Atrium	heart
18	chr7:39125000-39125200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:39125000-39125200	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:39125000-39125200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
21	chr7:39125000-39125200	Active TSS	Brain Hippocampus Middle	brain
22	chr7:39125000-39125200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:39125000-39125400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr7:39125000-39125400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:39125000-39125400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr7:39125000-39125400	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr7:39125000-39125400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:39125000-39125400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
29	chr7:39125000-39125400	Active TSS	Fetal Muscle Leg	muscle
30	chr7:39125000-39125600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:39125000-39125600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:39125000-39125600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:39125000-39125600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:39125000-39125600	Active TSS	Aorta	Aorta
35	chr7:39125000-39125600	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr7:39125000-39125600	Flanking Active TSS	Fetal Brain Male	brain
37	chr7:39125000-39125800	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr7:39125000-39126000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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