Variant report

Variant	rs11485987
Chromosome Location	chr1:223408224-223408225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:223407798-223408228	K562	blood:	n/a	n/a
2	CBX3	chr1:223406125-223409533	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:221914156..221916301-chr1:223405599..223408342,2	K562	blood:
2	chr1:223405869..223408498-chr1:223417441..223419461,2	K562	blood:
3	chr1:223407207..223408761-chr1:223417678..223419679,2	MCF-7	breast:
4	chr1:223400914..223405178-chr1:223405480..223408954,7	K562	blood:
5	chr1:223407302..223409358-chr1:223443045..223444830,2	K562	blood:
6	chr1:223406394..223408655-chr1:223414030..223416080,2	K562	blood:
7	chr1:223407234..223409780-chr1:223410393..223413813,3	K562	blood:
8	chr1:223382567..223385980-chr1:223405719..223408418,3	K562	blood:

No data

Variant related genes	Relation type
SUSD4	TF binding region
ENSG00000143507	Chromatin interaction
ENSG00000143502	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1035104	0.98[ASN][1000 genomes]
rs1640806	1.00[MEX][hapmap]
rs1640862	1.00[MEX][hapmap]
rs3768284	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap]
rs5744134	1.00[MEX][hapmap]
rs5744135	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs5744138	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs5744139	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs5744140	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs5744143	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs5744149	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs712862	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap]
rs73120300	0.98[ASN][1000 genomes]
rs74145710	1.00[EUR][1000 genomes]
rs74145725	1.00[EUR][1000 genomes]
rs74145726	1.00[EUR][1000 genomes]
rs74145740	1.00[EUR][1000 genomes]
rs851140	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs851151	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs851153	1.00[MEX][hapmap]
rs851159	1.00[MEX][hapmap]
rs851209	0.93[ASN][1000 genomes]
rs851210	0.91[ASN][1000 genomes]
rs851211	0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs851215	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs860372	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]

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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:223400800-223408800	Enhancers	Fetal Thymus	thymus
2	chr1:223401800-223408400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:223401800-223408400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr1:223401800-223408400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr1:223402000-223408400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr1:223402200-223408400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:223402400-223408400	Enhancers	Thymus	Thymus
8	chr1:223402600-223408400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:223402800-223408400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:223402800-223408400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:223404000-223408400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:223404200-223408400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr1:223404200-223408800	Enhancers	Primary T cells from cord blood	blood
14	chr1:223404400-223408400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr1:223405600-223408400	Enhancers	NH-A	brain
16	chr1:223406200-223408400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:223407600-223419400	Weak transcription	Esophagus	oesophagus
18	chr1:223407800-223416600	Weak transcription	Stomach Mucosa	stomach
19	chr1:223407800-223419600	Weak transcription	Right Atrium	heart
20	chr1:223408000-223408600	Weak transcription	Left Ventricle	heart
21	chr1:223408000-223408800	Enhancers	K562	blood
22	chr1:223408000-223410200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:223408200-223408400	Enhancers	Brain Angular Gyrus	brain

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