Variant report

Variant	rs12067935
Chromosome Location	chr1:95585547-95585548
allele	A/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	ZNF263	chr1:95584663-95585693	HEK293-T-REx	kidney:	n/a	n/a
2	POLR2A	chr1:95581058-95585752	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95582616..95585939-chr1:95698259..95700506,4	K562	blood:
2	chr1:95000799..95003612-chr1:95583736..95585676,2	K562	blood:

Variant related genes	Relation type
ENSG00000231992	TF binding region
ENSG00000122481	Chromatin interaction
ENSG00000117525	Chromatin interaction
ENSG00000226026	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10874906	0.88[AMR][1000 genomes]
rs11165314	0.96[AMR][1000 genomes]
rs11165317	0.85[AMR][1000 genomes]
rs11165318	0.88[AMR][1000 genomes]
rs11165319	0.88[AMR][1000 genomes]
rs11165333	0.88[AMR][1000 genomes]
rs11165343	0.85[AMR][1000 genomes]
rs12021650	0.85[AMR][1000 genomes]
rs12036706	0.88[AMR][1000 genomes]
rs12037572	0.85[AMR][1000 genomes]
rs12048133	0.88[AMR][1000 genomes]
rs12084387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12085822	0.88[AMR][1000 genomes]
rs12407571	0.85[AMR][1000 genomes]
rs2148797	0.85[AMR][1000 genomes]
rs61771764	0.85[AMR][1000 genomes]
rs61771765	0.85[AMR][1000 genomes]
rs61771766	0.85[AMR][1000 genomes]
rs61773101	0.95[EUR][1000 genomes]
rs6702139	0.96[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95583600-95585800	Flanking Active TSS	K562	blood
2	chr1:95583800-95587600	Weak transcription	Gastric	stomach
3	chr1:95584000-95586400	Enhancers	Brain Angular Gyrus	brain
4	chr1:95584000-95586600	Enhancers	Brain Anterior Caudate	brain
5	chr1:95584000-95586800	Enhancers	Brain Substantia Nigra	brain
6	chr1:95584000-95587600	Weak transcription	Fetal Intestine Small	intestine
7	chr1:95584000-95592600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:95584000-95629400	Weak transcription	Aorta	Aorta
9	chr1:95584200-95586800	Enhancers	Fetal Lung	lung
10	chr1:95584400-95586200	Enhancers	Brain Cingulate Gyrus	brain
11	chr1:95584400-95586400	Enhancers	Brain Hippocampus Middle	brain
12	chr1:95584400-95587400	Weak transcription	Fetal Intestine Large	intestine
13	chr1:95584400-95587600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:95584400-95588400	Weak transcription	Hela-S3	cervix
15	chr1:95584400-95590400	Enhancers	HepG2	liver
16	chr1:95584400-95603400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:95584600-95585600	Weak transcription	Right Atrium	heart
18	chr1:95584600-95588400	Enhancers	Duodenum Mucosa	Duodenum
19	chr1:95584600-95602200	Weak transcription	Right Ventricle	heart
20	chr1:95584800-95585800	Enhancers	Pancreas	Pancrea
21	chr1:95584800-95586200	Enhancers	Fetal Heart	heart
22	chr1:95584800-95586600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:95585000-95586400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:95585000-95589400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:95585200-95585800	Enhancers	A549	lung
26	chr1:95585200-95587000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:95585200-95587200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:95585200-95592200	Weak transcription	Psoas Muscle	Psoas
29	chr1:95585400-95585800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:95585400-95585800	Enhancers	Liver	Liver
31	chr1:95585400-95585800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr1:95585400-95636800	Weak transcription	Colon Smooth Muscle	Colon

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