Variant report

Variant	rs137989892
Chromosome Location	chr10:5888594-5888595
allele	C/T
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	EBF1	chr10:5888151-5888610	GM12878	blood:	n/a	n/a
2	NFIC	chr10:5887892-5888713	GM12878	blood:	n/a	n/a
3	SPI1	chr10:5887911-5888629	GM12878	blood:	n/a	n/a
4	ZBTB7A	chr10:5888528-5888721	HepG2	liver:	n/a	n/a
5	FOXA2	chr10:5888401-5888783	HepG2	liver:	n/a	n/a
6	RELA	chr10:5888066-5888600	GM19193	blood:	n/a	n/a
7	NFATC1	chr10:5887971-5888607	GM12878	blood:	n/a	n/a
8	ZNF384	chr10:5888509-5888756	K562	blood:	n/a	n/a
9	FOXA1	chr10:5888367-5888842	HepG2	liver:	n/a	chr10:5888546-5888561
10	PML	chr10:5888128-5888722	GM12878	blood:	n/a	n/a
11	CEBPB	chr10:5888482-5888964	HepG2	liver:	n/a	chr10:5888800-5888811
12	ZNF384	chr10:5888132-5888753	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:5887234..5889271-chr10:5891738..5894895,3	K562	blood:
2	chr10:5860095..5862542-chr10:5886681..5888594,2	MCF-7	breast:
3	chr10:5886207..5890565-chr10:5893992..5897304,3	K562	blood:
4	chr10:5887749..5890618-chr10:5895657..5897180,2	K562	blood:
5	chr10:5852473..5857853-chr10:5880942..5888645,8	MCF-7	breast:

Variant related genes	Relation type
GDI2	TF binding region
ENSG00000057608	Chromatin interaction
ENSG00000272764	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases
5	nsv5654	chr10:5868365-5930634	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv982902	chr10:5872818-5889953	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3342274	chr10:5875995-5901345	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1794948	chr10:5880066-5892545	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1795821	chr10:5880066-5893268	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1801910	chr10:5881740-5898882	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv1801679	chr10:5883033-5891501	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv1793088	chr10:5883308-5892545	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv3528067	chr10:5884196-5893994	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv3528068	chr10:5884196-5893994	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv1802022	chr10:5886149-5891501	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv1850053	chr10:5886435-5892515	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv825229	chr10:5886905-5967697	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	esv3456507	chr10:5887846-5894644	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv3516967	chr10:5888296-5894544	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	esv3516966	chr10:5888343-5894728	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv436115	chr10:5888583-5893300	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5883200-5897000	Enhancers	Primary B cells from peripheral blood	blood
2	chr10:5883400-5889000	Enhancers	Primary B cells from cord blood	blood
3	chr10:5886200-5889400	Enhancers	Placenta	Placenta
4	chr10:5886400-5888600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:5887000-5888800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:5887000-5888800	Enhancers	Fetal Muscle Leg	muscle
7	chr10:5887000-5889400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:5887200-5889000	Enhancers	GM12878-XiMat	blood
9	chr10:5887600-5888800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr10:5887800-5888800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:5888000-5888600	Enhancers	K562	blood
12	chr10:5888000-5888800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:5888000-5888800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:5888000-5888800	Enhancers	HUVEC	blood vessel
15	chr10:5888000-5888800	Enhancers	NHDF-Ad	bronchial
16	chr10:5888000-5889200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr10:5888200-5888600	Enhancers	Rectal Smooth Muscle	rectum
18	chr10:5888200-5888600	Flanking Active TSS	HepG2	liver
19	chr10:5888200-5888600	Enhancers	HMEC	breast
20	chr10:5888200-5888800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr10:5888200-5888800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr10:5888200-5888800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr10:5888200-5888800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr10:5888200-5888800	Enhancers	Adipose Nuclei	Adipose
25	chr10:5888200-5888800	Enhancers	Fetal Intestine Small	intestine
26	chr10:5888400-5888600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr10:5888400-5888600	Flanking Active TSS	Hela-S3	cervix
28	chr10:5888400-5888600	Enhancers	NHEK	skin
29	chr10:5888400-5889200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr10:5888400-5889200	Enhancers	Placenta Amnion	Placenta Amnion

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