Variant report

Variant	rs543730847
Chromosome Location	chr9:3523577-3523578
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	POLR2A	chr9:3520146-3530139	MCF10A-Er-Src	breast:	n/a	n/a
2	MAZ	chr9:3523521-3523682	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:3501077..3503324-chr9:3523015..3525744,2	MCF-7	breast:
2	chr9:3510896..3512703-chr9:3523478..3525761,2	MCF-7	breast:
3	chr9:3489743..3491847-chr9:3522486..3524735,2	K562	blood:
4	chr10:102106174..102108019-chr9:3523293..3526279,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232104	TF binding region
ENSG00000099194	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531566	chr9:3288211-3545454	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv892089	chr9:3290569-3578094	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv916259	chr9:3308176-4296711	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1028815	chr9:3319718-3584455	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1022795	chr9:3436845-3744623	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv539944	chr9:3476471-3535344	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	esv2477708	chr9:3523180-3524864	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3474400-3524400	Weak transcription	Thymus	Thymus
2	chr9:3480600-3524600	Weak transcription	Left Ventricle	heart
3	chr9:3503000-3524400	Weak transcription	Fetal Thymus	thymus
4	chr9:3509000-3523800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr9:3509000-3523800	Weak transcription	HSMM	muscle
6	chr9:3509000-3524400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:3509400-3523600	Weak transcription	Primary B cells from cord blood	blood
8	chr9:3511800-3523600	Weak transcription	Fetal Lung	lung
9	chr9:3512000-3524200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:3512000-3524400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr9:3512000-3525000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr9:3513800-3524400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr9:3515600-3525000	Weak transcription	Small Intestine	intestine
14	chr9:3517000-3524600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:3517400-3523600	Weak transcription	Fetal Brain Female	brain
16	chr9:3517800-3524000	Weak transcription	NHDF-Ad	bronchial
17	chr9:3518000-3524400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr9:3518200-3523600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:3518200-3524400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr9:3519400-3524400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr9:3520800-3524400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:3520800-3524400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr9:3520800-3524600	Weak transcription	Lung	lung
24	chr9:3521000-3524000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr9:3521000-3524400	Weak transcription	Fetal Kidney	kidney
26	chr9:3521000-3524600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:3521000-3524800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:3521400-3524600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:3521600-3523800	Enhancers	Dnd41	blood
30	chr9:3521800-3523800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:3521800-3523800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr9:3521800-3524000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr9:3521800-3524200	Enhancers	Primary T cells from cord blood	blood
34	chr9:3521800-3529000	Active TSS	GM12878-XiMat	blood
35	chr9:3522000-3524200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr9:3522000-3524200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr9:3522000-3524200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr9:3522200-3523600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr9:3522200-3524000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr9:3522200-3524200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr9:3522200-3524400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr9:3522200-3524600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr9:3522400-3523600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:3522400-3523600	Enhancers	Fetal Brain Male	brain
45	chr9:3522400-3524400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr9:3522600-3523800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr9:3522600-3523800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr9:3522600-3524000	Weak transcription	HepG2	liver
49	chr9:3522600-3530200	Active TSS	K562	blood
50	chr9:3522800-3523600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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