Variant report

Variant	rs565535712
Chromosome Location	chr9:95945904-95945905
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	MAX	chr9:95945867-95946818	H1-hESC	embryonic stem cell:	n/a	chr9:95946413-95946423
2	MAX	chr9:95945873-95946763	ECC-1	luminal epithelium:	n/a	chr9:95946413-95946423
3	MAX	chr9:95945830-95947338	HepG2	liver:	n/a	chr9:95946413-95946423
4	CTBP2	chr9:95945756-95946998	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr9:95945819-95946876	HCT-116	colon:	n/a	chr9:95946413-95946423
6	MAX	chr9:95945813-95946885	MCF-7	breast:	n/a	chr9:95946413-95946423
7	MAX	chr9:95945838-95946889	A549	lung:	n/a	chr9:95946413-95946423
8	MXI1	chr9:95945228-95947541	SK-N-SH	brain:	n/a	n/a
9	TCF12	chr9:95945843-95946441	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:95611802..95614664-chr9:95945185..95946709,2	MCF-7	breast:
2	chr9:95945010..95947116-chr9:96042384..96044882,2	MCF-7	breast:
3	chr9:95856307..95858930-chr9:95945344..95947454,2	MCF-7	breast:
4	chr9:95895042..95899051-chr9:95945154..95949540,5	MCF-7	breast:

Variant related genes	Relation type
WNK2	TF binding region
ENSG00000165233	Chromatin interaction
ENSG00000131669	Chromatin interaction
ENSG00000223446	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv824983	chr9:95902154-95978408	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv430082	chr9:95905745-96095045	Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv614880	chr9:95930572-95978265	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	esv3494114	chr9:95945281-95948679	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3494115	chr9:95945281-95948679	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95944200-95946000	Enhancers	Left Ventricle	heart
2	chr9:95944200-95946000	Enhancers	Pancreas	Pancrea
3	chr9:95944400-95946200	Enhancers	Gastric	stomach
4	chr9:95944800-95946000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr9:95945000-95946000	Weak transcription	Right Atrium	heart
6	chr9:95945400-95946000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:95945400-95946000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr9:95945400-95946000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr9:95945400-95946000	Enhancers	Spleen	Spleen
10	chr9:95945400-95946200	Enhancers	Fetal Heart	heart
11	chr9:95945600-95946000	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:95945600-95946000	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
13	chr9:95945600-95946000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:95945600-95946000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
15	chr9:95945600-95946000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
16	chr9:95945600-95946000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
17	chr9:95945600-95946000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr9:95945600-95946000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
19	chr9:95945600-95946000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:95945600-95946000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:95945600-95946000	Enhancers	Aorta	Aorta
22	chr9:95945600-95946000	Bivalent Enhancer	Liver	Liver
23	chr9:95945600-95946000	Bivalent Enhancer	Brain Hippocampus Middle	brain
24	chr9:95945600-95946000	Bivalent Enhancer	Brain Substantia Nigra	brain
25	chr9:95945600-95946000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
26	chr9:95945600-95946000	Enhancers	Esophagus	oesophagus
27	chr9:95945600-95946000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr9:95945600-95946000	Bivalent Enhancer	Fetal Kidney	kidney
29	chr9:95945600-95946000	Enhancers	Lung	lung
30	chr9:95945600-95946000	Enhancers	Psoas Muscle	Psoas
31	chr9:95945600-95946000	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
32	chr9:95945600-95946000	Bivalent Enhancer	Thymus	Thymus
33	chr9:95945600-95946200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:95945600-95946200	Enhancers	Fetal Brain Male	brain
35	chr9:95945600-95946200	Flanking Active TSS	Fetal Brain Female	brain
36	chr9:95945600-95946200	Flanking Active TSS	Right Ventricle	heart
37	chr9:95945600-95946200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
38	chr9:95945600-95946200	Flanking Bivalent TSS/Enh	HepG2	liver
39	chr9:95945600-95946400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr9:95945800-95946000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
41	chr9:95945800-95946000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:95945800-95946000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:95945800-95946000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
44	chr9:95945800-95946000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr9:95945800-95946000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
46	chr9:95945800-95946000	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
47	chr9:95945800-95946000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr9:95945800-95946000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr9:95945800-95946000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
50	chr9:95945800-95946000	Bivalent Enhancer	Adipose Nuclei	Adipose

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