Variant report

Variant	rs9423594
Chromosome Location	chr10:5334347-5334348
allele	A/C
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	CEBPB	chr10:5333418-5334399	Hela-S3	cervix:	n/a	chr10:5333459-5333476
2	MAX	chr10:5333192-5334530	A549	lung:	n/a	n/a
3	POLR2A	chr10:5334070-5334351	A549	lung:	n/a	n/a
4	FOSL2	chr10:5333112-5334502	A549	lung:	n/a	n/a
5	SP1	chr10:5333137-5334503	A549	lung:	n/a	n/a
6	NR3C1	chr10:5333336-5334494	A549	lung:	n/a	n/a
7	EP300	chr10:5333168-5334350	A549	lung:	n/a	n/a
8	SP1	chr10:5333223-5334678	A549	lung:	n/a	n/a
9	CEBPB	chr10:5333435-5334384	K562	blood:	n/a	chr10:5333459-5333476
10	TCF12	chr10:5332895-5334785	A549	lung:	n/a	n/a
11	POLR2A	chr10:5334167-5334350	A549	lung:	n/a	n/a
12	CEBPB	chr10:5333174-5334557	A549	lung:	n/a	chr10:5333459-5333476
13	JUN	chr10:5333407-5334469	K562	blood:	n/a	n/a
14	POLR2A	chr10:5333640-5334749	MCF10A-Er-Src	breast:	n/a	n/a
15	CEBPB	chr10:5333462-5334380	HCT-116	colon:	n/a	n/a
16	EP300	chr10:5332971-5334476	A549	lung:	n/a	n/a
17	GATA3	chr10:5333128-5334561	A549	lung:	n/a	n/a
18	POLR2A	chr10:5333481-5334676	HL-60	blood:	n/a	n/a
19	GATA3	chr10:5333426-5334490	A549	lung:	n/a	n/a
20	CEBPB	chr10:5333274-5334468	A549	lung:	n/a	chr10:5333459-5333476
21	SMC3	chr10:5333616-5334396	Hela-S3	cervix:	n/a	n/a
22	E2F4	chr10:5333854-5334352	MCF10A-Er-Src	breast:	n/a	chr10:5334051-5334068
23	MAX	chr10:5333290-5334418	A549	lung:	n/a	n/a
24	POLR2A	chr10:5333617-5334810	NB4	blood:	n/a	n/a
25	POLR2A	chr10:5333307-5334820	MCF10A-Er-Src	breast:	n/a	n/a
26	MYC	chr10:5333413-5334614	NB4	blood:	n/a	n/a
27	BCL3	chr10:5333309-5334562	A549	lung:	n/a	n/a
28	POLR2A	chr10:5334145-5334384	A549	lung:	n/a	n/a
29	MAX	chr10:5333414-5334639	NB4	blood:	n/a	n/a
30	REST	chr10:5333300-5334477	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5333712..5336149-chr10:5487099..5489733,2	MCF-7	breast:
2	chr10:4869978..4871994-chr10:5334140..5336719,2	K562	blood:

Variant related genes	Relation type
AKR1C7P	TF binding region
ENSG00000173848	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs9423403	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs9423593	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9423597	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1036291	chr10:5076258-5456234	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv932104	chr10:5203626-5641023	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv549886	chr10:5205437-5632060	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer 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	45 gene(s)	inside rSNPs	diseases
7	nsv1054865	chr10:5225305-5638119	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv466715	chr10:5285597-5348491	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv466717	chr10:5285597-5348491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv549888	chr10:5285597-5348491	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv894795	chr10:5286600-5348491	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv894796	chr10:5300976-5348491	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5326000-5336000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:5326600-5337200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:5332600-5334600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr10:5332600-5334600	Flanking Active TSS	A549	lung
5	chr10:5332800-5334600	Enhancers	Primary hematopoietic stem cells	blood
6	chr10:5332800-5336600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr10:5333000-5334600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr10:5333000-5336600	Enhancers	HMEC	breast
9	chr10:5333200-5334400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr10:5333200-5334600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr10:5333200-5334600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr10:5333200-5334600	Flanking Active TSS	Dnd41	blood
13	chr10:5333200-5336600	Enhancers	HUVEC	blood vessel
14	chr10:5333400-5334400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:5333400-5334400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr10:5333400-5334400	Flanking Active TSS	Hela-S3	cervix
17	chr10:5333400-5334400	Enhancers	NH-A	brain
18	chr10:5333400-5334600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:5333400-5334600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr10:5333400-5334600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr10:5333400-5334600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr10:5333400-5334600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr10:5333400-5334600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:5333400-5334600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr10:5333400-5334600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:5333400-5334600	Enhancers	Fetal Intestine Large	intestine
27	chr10:5333400-5334600	Enhancers	Fetal Intestine Small	intestine
28	chr10:5333400-5334600	Enhancers	Placenta	Placenta
29	chr10:5333400-5334600	Enhancers	NHLF	lung
30	chr10:5333400-5334800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr10:5333400-5336600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:5333600-5334400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr10:5333600-5334400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr10:5333600-5334400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr10:5333600-5334400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:5333600-5334400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr10:5333600-5334400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr10:5333600-5334400	Enhancers	Psoas Muscle	Psoas
39	chr10:5333600-5334400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr10:5333600-5334400	Enhancers	HSMMtube	muscle
41	chr10:5333600-5334600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr10:5333600-5334600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr10:5333600-5334600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr10:5333600-5334600	Enhancers	Lung	lung
45	chr10:5333600-5334600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr10:5333600-5334600	Enhancers	Thymus	Thymus
47	chr10:5333600-5334600	Enhancers	Spleen	Spleen
48	chr10:5333600-5334800	Enhancers	Right Atrium	heart
49	chr10:5333600-5336400	Enhancers	Esophagus	oesophagus
50	chr10:5333600-5336400	Enhancers	Skeletal Muscle Male	skeletal muscle

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