Variant report

Variant	rs2228686
Chromosome Location	chr7:102616515-102616516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr7:102616419-102616634	K562	blood:	n/a	n/a
2	HEY1	chr7:102616255-102616732	K562	blood:	n/a	n/a
3	POLR2A	chr7:102616111-102616688	K562	blood:	n/a	n/a
4	POLR2A	chr7:102616137-102617329	K562	blood:	n/a	n/a
5	POLR2A	chr7:102616429-102616653	K562	blood:	n/a	n/a
6	HEY1	chr7:102616195-102616632	K562	blood:	n/a	n/a
7	MAX	chr7:102616113-102616718	K562	blood:	n/a	n/a
8	ZBTB7A	chr7:102616352-102616627	K562	blood:	n/a	n/a
9	POLR2A	chr7:102614740-102616726	K562	blood:	n/a	n/a
10	POLR2A	chr7:102615973-102617898	K562	blood:	n/a	n/a
11	MAX	chr7:102616307-102616612	K562	blood:	n/a	n/a
12	POLR2A	chr7:102616217-102616728	K562	blood:	n/a	n/a
13	CBX3	chr7:102616016-102616744	K562	blood:	n/a	n/a
14	E2F6	chr7:102616281-102616622	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:102616176..102618073-chr7:103034545..103036072,2	K562	blood:
2	chr7:102616376..102618625-chr7:102696676..102699468,2	K562	blood:
3	chr7:102452440..102454909-chr7:102615064..102617723,2	K562	blood:

No data

Variant related genes	Relation type
FBXL13	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10250490	0.81[ASN][1000 genomes]
rs10257543	0.83[EUR][1000 genomes]
rs10273725	0.83[EUR][1000 genomes]
rs10435335	0.81[EUR][1000 genomes]
rs10499952	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1100044	0.85[EUR][1000 genomes]
rs1100046	0.83[ASN][1000 genomes]
rs11514917	0.89[ASN][1000 genomes]
rs11543736	0.80[EUR][1000 genomes]
rs11970869	0.83[EUR][1000 genomes]
rs11972019	0.83[EUR][1000 genomes]
rs11972261	0.88[ASN][1000 genomes]
rs11972644	0.83[EUR][1000 genomes]
rs11976237	0.86[ASN][1000 genomes]
rs11978670	0.83[EUR][1000 genomes]
rs11978768	0.83[EUR][1000 genomes]
rs11978799	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12056296	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12532495	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12533386	0.85[EUR][1000 genomes]
rs12537977	0.81[ASN][1000 genomes]
rs12540384	0.83[EUR][1000 genomes]
rs12671803	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13233521	0.86[ASN][1000 genomes]
rs13242493	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1608651	0.90[ASN][1000 genomes]
rs17136137	0.83[EUR][1000 genomes]
rs2009503	0.84[EUR][1000 genomes]
rs2159022	0.83[EUR][1000 genomes]
rs2190673	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2411056	0.80[EUR][1000 genomes]
rs2411059	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28856331	0.81[ASN][1000 genomes]
rs35479298	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41501847	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4296965	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4609128	0.81[ASN][1000 genomes]
rs4620204	0.86[ASN][1000 genomes]
rs4729860	0.90[ASN][1000 genomes]
rs56921864	0.83[EUR][1000 genomes]
rs57368671	0.82[EUR][1000 genomes]
rs57545514	0.83[EUR][1000 genomes]
rs57616389	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58191643	0.83[EUR][1000 genomes]
rs59278165	0.83[EUR][1000 genomes]
rs61679881	0.83[EUR][1000 genomes]
rs6465877	0.83[EUR][1000 genomes]
rs6465878	0.84[EUR][1000 genomes]
rs6465879	0.82[EUR][1000 genomes]
rs6465882	0.87[EUR][1000 genomes]
rs6465885	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6942855	0.83[EUR][1000 genomes]
rs6945997	0.89[ASN][1000 genomes]
rs6947403	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6949150	0.83[EUR][1000 genomes]
rs6953980	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6956781	0.83[EUR][1000 genomes]
rs6957434	0.83[EUR][1000 genomes]
rs6957771	0.85[EUR][1000 genomes]
rs6960428	0.86[ASN][1000 genomes]
rs6968713	0.87[EUR][1000 genomes]
rs6975451	0.83[EUR][1000 genomes]
rs6977145	0.83[EUR][1000 genomes]
rs73406284	0.83[EUR][1000 genomes]
rs73406302	0.83[EUR][1000 genomes]
rs73408204	0.83[EUR][1000 genomes]
rs73408250	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7458786	0.81[ASN][1000 genomes]
rs7779618	0.83[EUR][1000 genomes]
rs7789252	0.90[ASN][1000 genomes]
rs7796335	0.83[EUR][1000 genomes]
rs7804322	0.80[EUR][1000 genomes]
rs7807055	0.81[ASN][1000 genomes]
rs847646	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs847648	0.83[ASN][1000 genomes]
rs847649	0.81[ASN][1000 genomes]
rs847652	0.85[EUR][1000 genomes]
rs847656	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs847658	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs865865	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs869332	0.90[ASN][1000 genomes]
rs955992	0.90[ASN][1000 genomes]
rs9718453	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv5881	chr7:102610488-102655699	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3366768	chr7:102613816-102618977	Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv11760	chr7:102614464-102617348	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102591000-102619400	Weak transcription	HSMM	muscle
2	chr7:102608800-102618600	Weak transcription	Osteobl	bone
3	chr7:102613000-102625600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:102613200-102631200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:102613800-102617000	Weak transcription	Fetal Stomach	stomach
6	chr7:102613800-102618600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:102614200-102618600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr7:102614200-102618800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr7:102615000-102618000	Transcr. at gene 5' and 3'	K562	blood
10	chr7:102615600-102618600	Weak transcription	HUVEC	blood vessel
11	chr7:102615600-102619000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:102615800-102616600	Enhancers	Primary neutrophils fromperipheralblood	blood

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