Variant report

Variant	rs560530638
Chromosome Location	chr9:95947121-95947122
allele	C/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	SIN3A	chr9:95946040-95947412	H1-hESC	embryonic stem cell:	n/a	chr9:95947163-95947174 chr9:95946370-95946383 chr9:95946992-95947005
2	REST	chr9:95946196-95947337	H1-neurons	neurons:	n/a	chr9:95946370-95946383
3	MAX	chr9:95946966-95947426	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr9:95947038-95947283	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr9:95945830-95947338	HepG2	liver:	n/a	chr9:95946413-95946423
6	YY1	chr9:95947067-95947450	H1-hESC	embryonic stem cell:	n/a	chr9:95947104-95947115 chr9:95947163-95947174
7	MAX	chr9:95947001-95947428	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZBTB7A	chr9:95946976-95947153	HepG2	liver:	n/a	chr9:95947063-95947071
9	POLR2A	chr9:95946087-95947453	H1-neurons	neurons:	n/a	n/a
10	E2F6	chr9:95947004-95947540	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr9:95945228-95947541	SK-N-SH	brain:	n/a	n/a
12	GABPA	chr9:95946773-95947280	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95856307..95858930-chr9:95945344..95947454,2	MCF-7	breast:
2	chr9:95895042..95899051-chr9:95945154..95949540,5	MCF-7	breast:

Variant related genes	Relation type
WNK2	TF binding region
ENSG00000223446	Chromatin interaction
ENSG00000165233	Chromatin interaction
ENSG00000131669	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95945800-95947200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:95945800-95947400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:95945800-95947800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr9:95945800-95947800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr9:95945800-95948000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr9:95945800-95949200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr9:95945800-95949600	Active TSS	Brain Cingulate Gyrus	brain
8	chr9:95946000-95947200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:95946000-95947200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr9:95946000-95947200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:95946000-95947200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:95946000-95947200	Flanking Active TSS	Lung	lung
13	chr9:95946000-95947200	Active TSS	A549	lung
14	chr9:95946000-95947200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr9:95946000-95947400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr9:95946000-95947400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:95946000-95947400	Active TSS	Aorta	Aorta
18	chr9:95946000-95947400	Flanking Bivalent TSS/Enh	Thymus	Thymus
19	chr9:95946000-95947400	Flanking Active TSS	Spleen	Spleen
20	chr9:95946000-95947800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:95946000-95948000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr9:95946000-95948200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr9:95946200-95947200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr9:95946200-95947200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
25	chr9:95946200-95947200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
26	chr9:95946200-95947200	Active TSS	Pancreas	Pancrea
27	chr9:95946200-95947200	Active TSS	Hela-S3	cervix
28	chr9:95946200-95947400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr9:95946200-95947400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:95946200-95947400	Active TSS	Primary T cells from cord blood	blood
31	chr9:95946200-95947400	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr9:95946200-95947400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr9:95946200-95947400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr9:95946200-95947400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr9:95946200-95947400	Enhancers	Liver	Liver
36	chr9:95946200-95947400	Active TSS	Gastric	stomach
37	chr9:95946200-95947600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:95946200-95947600	Weak transcription	Fetal Brain Male	brain
39	chr9:95946200-95947600	Active TSS	Ovary	ovary
40	chr9:95946200-95947600	Active TSS	Psoas Muscle	Psoas
41	chr9:95946200-95947600	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr9:95946200-95947800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr9:95946200-95947800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:95946200-95947800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr9:95946200-95947800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr9:95946200-95947800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr9:95946200-95947800	Active TSS	Fetal Brain Female	brain
48	chr9:95946200-95947800	Weak transcription	Fetal Heart	heart
49	chr9:95946200-95947800	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr9:95946200-95947800	Active TSS	Rectal Mucosa Donor 31	rectum

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