Variant report

Variant	rs6593362
Chromosome Location	chr10:44101391-44101392
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	CBX3	chr10:44101381-44102293	K562	blood:	n/a	n/a
2	GATA3	chr10:44101145-44101955	MCF-7	breast:	n/a	n/a
3	TCF7L2	chr10:44101327-44101581	MCF-7	breast:	n/a	n/a
4	ESR1	chr10:44101120-44101660	T-47D	breast:	n/a	n/a
5	GABPA	chr10:44101262-44102755	MCF-7	breast:	n/a	chr10:44101858-44101865 chr10:44102360-44102369
6	GATA2	chr10:44101220-44102401	SH-SY5Y	brain:	n/a	n/a
7	GABPA	chr10:44101346-44102269	K562	blood:	n/a	chr10:44101858-44101865
8	GATA3	chr10:44101173-44101941	MCF-7	breast:	n/a	n/a
9	FOXA1	chr10:44101173-44101746	T-47D	breast:	n/a	n/a
10	SIN3AK20	chr10:44100966-44102378	MCF-7	breast:	n/a	n/a
11	GABPA	chr10:44101319-44102509	MCF-7	breast:	n/a	chr10:44101858-44101865 chr10:44102360-44102369
12	ELF1	chr10:44101362-44102754	MCF-7	breast:	n/a	chr10:44101856-44101865 chr10:44101854-44101867 chr10:44101842-44101854
13	GATA3	chr10:44101139-44101417	SH-SY5Y	brain:	n/a	n/a
14	SIN3AK20	chr10:44101169-44102284	MCF-7	breast:	n/a	n/a
15	ESR1	chr10:44101196-44101649	T-47D	breast:	n/a	n/a
16	HCFC1	chr10:44101130-44102813	Hela-S3	cervix:	n/a	n/a
17	MAX	chr10:44101326-44102935	MCF-7	breast:	n/a	n/a
18	MXI1	chr10:44101296-44103060	SK-N-SH	brain:	n/a	n/a
19	GATA3	chr10:44100696-44101775	T-47D	breast:	n/a	n/a
20	GATA3	chr10:44101106-44102440	MCF-7	breast:	n/a	n/a
21	ESR1	chr10:44101116-44101754	T-47D	breast:	n/a	n/a
22	GATA3	chr10:44101157-44102409	T-47D	breast:	n/a	n/a
23	FOXA1	chr10:44101138-44101672	T-47D	breast:	n/a	n/a
24	NR2F2	chr10:44101146-44101756	MCF-7	breast:	n/a	n/a
25	GABPA	chr10:44101252-44102359	A549	lung:	n/a	chr10:44101858-44101865

No.	Distal block	Cell Line	Cell type
1	chr10:44100612..44103408-chr10:44143126..44145241,3	MCF-7	breast:
2	chr10:44068620..44071892-chr10:44099602..44104778,6	MCF-7	breast:
3	chr10:43902834..43905281-chr10:44101183..44103050,2	MCF-7	breast:
4	chr10:44100401..44102576-chr10:44125762..44128541,3	MCF-7	breast:
5	chr10:43901770..43904893-chr10:44100789..44103373,5	MCF-7	breast:

Variant related genes	Relation type
ZNF485	TF binding region
ENSG00000238263	Chromatin interaction
ENSG00000169813	Chromatin interaction
ENSG00000237389	Chromatin interaction
ENSG00000196793	Chromatin interaction
ENSG00000169740	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10793446	0.81[ASN][1000 genomes]
rs10793447	0.94[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs10793448	0.88[ASN][1000 genomes]
rs10793449	0.94[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs10793450	0.92[ASN][1000 genomes]
rs10793451	0.94[ASW][hapmap];0.83[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.84[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10899837	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10899838	0.94[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs11238592	0.88[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1974282	0.88[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs2039723	0.94[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2039724	0.82[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2066045	0.92[ASN][1000 genomes]
rs2066046	0.94[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs2393936	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs2393946	0.85[ASN][1000 genomes]
rs3123680	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3123681	0.91[ASN][1000 genomes]
rs4948749	0.88[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs7342073	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7474652	0.88[ASN][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	nsv947897	chr10:44098895-44102321	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44091400-44101400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr10:44092200-44101400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr10:44093000-44101600	Weak transcription	Primary T cells from cord blood	blood
4	chr10:44095000-44101400	Weak transcription	Spleen	Spleen
5	chr10:44098200-44101400	Weak transcription	Gastric	stomach
6	chr10:44101200-44101400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr10:44101200-44101400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr10:44101200-44101400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr10:44101200-44101400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr10:44101200-44101400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:44101200-44101400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:44101200-44101400	Enhancers	Adipose Nuclei	Adipose
13	chr10:44101200-44101400	Enhancers	Brain Anterior Caudate	brain
14	chr10:44101200-44101400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:44101200-44101400	Enhancers	Ovary	ovary
16	chr10:44101200-44101400	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr10:44101200-44101400	Active TSS	Stomach Smooth Muscle	stomach
18	chr10:44101200-44101400	Enhancers	Dnd41	blood
19	chr10:44101200-44101400	Enhancers	NHDF-Ad	bronchial
20	chr10:44101200-44101600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr10:44101200-44101600	Enhancers	Right Ventricle	heart
22	chr10:44101200-44101800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr10:44101200-44102200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr10:44101200-44102600	Active TSS	Brain Cingulate Gyrus	brain
25	chr10:44101200-44102600	Active TSS	Colon Smooth Muscle	Colon
26	chr10:44101200-44102800	Enhancers	Fetal Heart	heart
27	chr10:44101200-44103000	Active TSS	Brain Angular Gyrus	brain

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