Variant report

Variant	rs12335285
Chromosome Location	chr8:4479836-4479837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1564179	0.83[ASN][1000 genomes]
rs2617105	0.88[ASN][1000 genomes]
rs2725041	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530531	chr8:3942575-4605088	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv889939	chr8:4033186-4718648	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv889960	chr8:4395685-4489552	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv465384	chr8:4413282-4512135	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv609857	chr8:4413282-4512135	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv428513	chr8:4435878-4613986	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1844135	chr8:4442963-4602387	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv889962	chr8:4453036-4480667	Enhancers ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
9	esv2422279	chr8:4458646-4641684	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv465386	chr8:4467334-4676661	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv609861	chr8:4467334-4676661	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv609863	chr8:4468173-4480689	Enhancers Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
13	nsv465387	chr8:4470747-4481209	Active TSS Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
14	nsv609864	chr8:4470747-4481209	Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
15	nsv609865	chr8:4473133-4485248	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
16	nsv517334	chr8:4473133-4489552	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
17	esv2829887	chr8:4475968-4484498	Enhancers Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
18	nsv609866	chr8:4475968-4484498	Enhancers Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
19	nsv465388	chr8:4475968-4485248	Enhancers ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
20	nsv609867	chr8:4475968-4485248	Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
21	nsv609868	chr8:4475968-4486561	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
22	nsv609869	chr8:4477704-4484498	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
23	nsv609870	chr8:4478988-4485248	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
24	esv2761196	chr8:4479596-4488884	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
25	nsv609871	chr8:4479807-4485248	Enhancers Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12335285	CSMD1	cis	Thyroid	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4479800-4480000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:4479800-4480000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:4479800-4480000	Enhancers	Fetal Muscle Leg	muscle
4	chr8:4479800-4480200	Active TSS	Brain Angular Gyrus	brain
5	chr8:4479800-4480200	Active TSS	Brain Cingulate Gyrus	brain
6	chr8:4479800-4480200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr8:4479800-4480200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:4479800-4480200	Active TSS	Brain Substantia Nigra	brain
9	chr8:4479800-4480400	Active TSS	Brain Hippocampus Middle	brain

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