Variant report

Variant	rs1708386
Chromosome Location	chr3:133095890-133095891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:117)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:117 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr3:133095733-133095928	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr3:133095751-133095960	K562	blood:	n/a	n/a
3	CTCF	chr3:133095647-133096716	A549	lung:	n/a	chr3:133096424-133096440
4	CTCF	chr3:133095780-133095930	A549	lung:	n/a	n/a
5	CTCF	chr3:133095800-133095950	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr3:133095780-133095930	HA-sp	spinal cord:	n/a	n/a
7	CTCF	chr3:133095763-133095956	GM12892	blood:	n/a	n/a
8	MYC	chr3:133095819-133095906	NB4	blood:	n/a	n/a
9	CTCF	chr3:133095860-133096010	AG04450	lung:	n/a	n/a
10	CTCF	chr3:133095740-133095890	GM12869	blood:	n/a	n/a
11	CTCF	chr3:133095760-133095910	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr3:133095820-133095970	HMF	breast:	n/a	n/a
13	CTCF	chr3:133095740-133095969	Fibrobl	skin:	n/a	n/a
14	CTCF	chr3:133095806-133095928	MCF-7	breast:	n/a	n/a
15	CHD2	chr3:133095830-133095960	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr3:133095715-133095937	GM12878	blood:	n/a	n/a
17	CTCF	chr3:133095780-133095930	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr3:133095743-133095921	HepG2	liver:	n/a	n/a
19	RAD21	chr3:133095680-133095916	GM12878	blood:	n/a	n/a
20	CTCF	chr3:133095740-133095890	GM12878	blood:	n/a	n/a
21	RAD21	chr3:133095636-133096020	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr3:133095800-133095950	AG09319	gingival:	n/a	n/a
23	SMC3	chr3:133095826-133095901	GM12878	blood:	n/a	n/a
24	CTCF	chr3:133095720-133095997	Medullo	brain:	n/a	n/a
25	CTCF	chr3:133095771-133095952	MCF-7	breast:	n/a	n/a
26	CTCF	chr3:133095780-133095930	GM12865	blood:	n/a	n/a
27	CTCF	chr3:133095820-133095970	HL-60	blood:	n/a	n/a
28	CTCF	chr3:133095783-133095944	ProgFib	skin:	n/a	n/a
29	CTCF	chr3:133095760-133095910	HCM	heart:	n/a	n/a
30	CTCF	chr3:133095780-133095930	AG10803	skin:	n/a	n/a
31	CTCF	chr3:133095800-133095950	GM12875	blood:	n/a	n/a
32	CTCF	chr3:133095732-133095960	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr3:133095840-133095990	RPTEC	kidney:	n/a	n/a
34	SMC3	chr3:133094649-133096816	SK-N-SH	brain:	n/a	n/a
35	RAD21	chr3:133095593-133096058	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr3:133095760-133095975	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr3:133095800-133095950	K562	blood:	n/a	n/a
38	CTCF	chr3:133095748-133095949	GM12878	blood:	n/a	n/a
39	CTCF	chr3:133095760-133095910	BE2_C	brain:	n/a	n/a
40	CTCF	chr3:133095740-133095890	HCT-116	colon:	n/a	n/a
41	CTCF	chr3:133095820-133095970	HFF-Myc	foreskin:	n/a	n/a
42	RAD21	chr3:133095612-133096641	HCT-116	colon:	n/a	n/a
43	RAD21	chr3:133093971-133097201	SK-N-SH	brain:	n/a	chr3:133097180-133097193
44	CTCF	chr3:133095592-133097067	SK-N-SH	brain:	n/a	chr3:133096424-133096440
45	CTCF	chr3:133095780-133095930	AG09309	skin:	n/a	n/a
46	MXI1	chr3:133095106-133096718	SK-N-SH	brain:	n/a	n/a
47	RAD21	chr3:133095504-133096714	HCT-116	colon:	n/a	n/a
48	CTCF	chr3:133095840-133095990	GM12864	blood:	n/a	n/a
49	CTCF	chr3:133095760-133095910	HRE	kidney:	n/a	n/a
50	CTCF	chr3:133095780-133095930	HPAF	blood vessel:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:132757025..132759537-chr3:133094667..133096708,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM108	TF binding region
ENSG00000144868	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1109858	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1197308	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1201674	0.82[AMR][1000 genomes]
rs1567788	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1708357	0.82[AMR][1000 genomes]
rs1795101	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4854582	0.82[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	nsv877503	chr3:133035774-133104631	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133080800-133098600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:133083200-133099200	Weak transcription	Lung	lung
3	chr3:133092400-133096400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr3:133092600-133096400	Enhancers	Fetal Brain Male	brain
5	chr3:133093000-133102400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:133093800-133096400	Enhancers	Fetal Brain Female	brain
7	chr3:133093800-133098200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:133094000-133099400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:133094000-133099800	Weak transcription	HSMMtube	muscle
10	chr3:133094000-133109000	Weak transcription	HSMM	muscle
11	chr3:133094200-133096000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:133094200-133096000	Enhancers	Brain Germinal Matrix	brain
13	chr3:133094200-133100000	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:133094400-133096200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:133094400-133100000	Weak transcription	Brain Angular Gyrus	brain
16	chr3:133094400-133102800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:133094800-133102000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:133094800-133110400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:133095000-133096400	Enhancers	Fetal Stomach	stomach
20	chr3:133095000-133099600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:133095200-133103200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr3:133095400-133098800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:133095600-133096200	Weak transcription	Fetal Lung	lung
24	chr3:133095800-133096200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:133095800-133096400	Enhancers	Adipose Nuclei	Adipose
26	chr3:133095800-133096400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr3:133095800-133099200	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:133095800-133103200	Weak transcription	Fetal Muscle Trunk	muscle

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