Variant report

Variant	rs2081768
Chromosome Location	chr2:171780482-171780483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr2:171780235-171780743	K562	blood:	n/a	n/a
2	KAP1	chr2:171780355-171780569	U2OS	brain:	n/a	n/a
3	JUN	chr2:171780468-171780644	K562	blood:	n/a	n/a
4	TRIM28	chr2:171780137-171780809	K562	blood:	n/a	n/a
5	MXI1	chr2:171780351-171780648	H1-hESC	embryonic stem cell:	n/a	n/a
6	SETDB1	chr2:171780049-171780728	K562	blood:	n/a	n/a
7	USF1	chr2:171780283-171780647	K562	blood:	n/a	n/a
8	ZNF143	chr2:171780344-171780703	K562	blood:	n/a	n/a
9	REST	chr2:171780351-171780611	K562	blood:	n/a	n/a
10	CBX3	chr2:171780120-171780764	K562	blood:	n/a	n/a
11	TRIM28	chr2:171780283-171780661	K562	blood:	n/a	n/a
12	SETDB1	chr2:171780150-171780915	K562	blood:	n/a	n/a
13	SETDB1	chr2:171780187-171780837	U2OS	brain:	n/a	n/a
14	KAP1	chr2:171780158-171781005	K562	blood:	n/a	n/a
15	MXI1	chr2:171780445-171780567	K562	blood:	n/a	n/a
16	ZNF143	chr2:171780320-171780638	H1-hESC	embryonic stem cell:	n/a	n/a
17	ELF1	chr2:171780394-171780724	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171774230..171778889-chr2:171780066..171784826,7	K562	blood:
2	chr2:171780184..171782064-chr2:171783769..171787050,3	MCF-7	breast:

No data

Variant related genes	Relation type
GORASP2	TF binding region
ENSG00000115806	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10930447	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11898754	0.82[YRI][hapmap]
rs11899713	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902369	0.82[CHB][hapmap]
rs11904750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465605	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12467411	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12468326	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12473741	0.85[JPT][hapmap]
rs13410683	0.85[CHB][hapmap]
rs16859026	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16859028	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16859050	0.86[CHB][hapmap]
rs16859076	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16859157	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs17505447	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17608242	0.90[EUR][1000 genomes]
rs2059723	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2081766	0.88[AFR][1000 genomes]
rs2081767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2098999	0.87[CHB][hapmap]
rs2356422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731993	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3755124	0.86[CHB][hapmap]
rs3755126	0.86[CHB][hapmap]
rs3770436	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3770439	1.00[CEU][hapmap]
rs3886463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4668343	0.87[CHB][hapmap]
rs4668354	0.87[CHB][hapmap]
rs57556696	1.00[ASN][1000 genomes]
rs930035	0.80[CHB][hapmap]
rs964172	0.81[CHB][hapmap]

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	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171775000-171784800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:171778200-171784800	Weak transcription	Right Ventricle	heart
3	chr2:171778400-171785000	Weak transcription	Right Atrium	heart
4	chr2:171779000-171784600	Weak transcription	Fetal Heart	heart
5	chr2:171779400-171781400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:171779400-171781800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr2:171779600-171780800	ZNF genes & repeats	Fetal Thymus	thymus
8	chr2:171779600-171781200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:171779600-171781800	ZNF genes & repeats	Dnd41	blood
10	chr2:171779600-171782800	Weak transcription	HepG2	liver
11	chr2:171779800-171780800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:171779800-171781200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:171780000-171781000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:171780200-171781600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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