Variant report

Variant	rs2391630
Chromosome Location	chr1:95605556-95605557
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	RAD21	chr1:95605369-95605764	HepG2	liver:	n/a	n/a
2	CTCF	chr1:95605540-95605690	AG09319	gingival:	n/a	n/a
3	SMC3	chr1:95605487-95605640	HepG2	liver:	n/a	n/a
4	CTCF	chr1:95605510-95605651	HepG2	liver:	n/a	n/a
5	CTCF	chr1:95605528-95605643	K562	blood:	n/a	n/a
6	RAD21	chr1:95605379-95605763	HCT-116	colon:	n/a	n/a
7	RAD21	chr1:95605450-95605660	HepG2	liver:	n/a	n/a
8	CTCF	chr1:95605483-95605641	HepG2	liver:	n/a	n/a
9	CTCF	chr1:95605540-95605690	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr1:95605520-95605670	K562	blood:	n/a	n/a
11	CTCF	chr1:95605492-95605695	K562	blood:	n/a	n/a
12	CTCF	chr1:95605540-95605690	HepG2	liver:	n/a	n/a
13	RAD21	chr1:95605433-95605656	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr1:95605538-95605643	GM10266	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95599337..95601129-chr1:95603981..95606226,2	K562	blood:

Variant related genes	Relation type
TMEM56	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10782998	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11165320	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12035503	1.00[AMR][1000 genomes]
rs12406444	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1998967	0.83[AFR][1000 genomes]
rs6695720	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7365394	0.88[AFR][1000 genomes]
rs7517250	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7520889	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7526279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7532269	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs915502	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs915503	0.93[AFR][1000 genomes];1.00[AMR][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	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
2	nsv870669	chr1:95586773-95690269	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95584000-95629400	Weak transcription	Aorta	Aorta
2	chr1:95585400-95636800	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:95588200-95608000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:95590000-95611000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:95592800-95634200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:95592800-95661800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:95594600-95610600	Weak transcription	A549	lung
8	chr1:95598600-95612400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:95598800-95633800	Weak transcription	Fetal Heart	heart
10	chr1:95600000-95650200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:95601200-95618400	Weak transcription	Pancreas	Pancrea
12	chr1:95601800-95633600	Weak transcription	HepG2	liver
13	chr1:95602200-95615400	Weak transcription	Ovary	ovary
14	chr1:95602200-95628000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:95602800-95628800	Weak transcription	Adipose Nuclei	Adipose
16	chr1:95602800-95634200	Weak transcription	Left Ventricle	heart
17	chr1:95603000-95607600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:95603000-95608000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:95603000-95608200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:95603000-95640800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:95604200-95609800	Weak transcription	Liver	Liver
22	chr1:95604200-95630000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:95605200-95606000	Strong transcription	K562	blood

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