Variant report

Variant	rs572071490
Chromosome Location	chr9:95946725-95946726
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	E2F6	chr9:95946299-95946847	H1-hESC	embryonic stem cell:	n/a	chr9:95946607-95946619 chr9:95946606-95946617 chr9:95946781-95946791
2	TAF1	chr9:95946333-95946747	HepG2	liver:	n/a	n/a
3	SIN3A	chr9:95946040-95947412	H1-hESC	embryonic stem cell:	n/a	chr9:95947163-95947174 chr9:95946370-95946383 chr9:95946992-95947005
4	MAX	chr9:95945867-95946818	H1-hESC	embryonic stem cell:	n/a	chr9:95946413-95946423
5	REST	chr9:95946196-95947337	H1-neurons	neurons:	n/a	chr9:95946370-95946383
6	E2F6	chr9:95946166-95946971	K562	blood:	n/a	chr9:95946607-95946619 chr9:95946606-95946617 chr9:95946781-95946791
7	MAX	chr9:95945873-95946763	ECC-1	luminal epithelium:	n/a	chr9:95946413-95946423
8	FOXP2	chr9:95946254-95946776	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr9:95946117-95946739	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr9:95946239-95946731	HEK293	kidney:	n/a	n/a
11	MAX	chr9:95945951-95946740	A549	lung:	n/a	chr9:95946413-95946423
12	POLR2A	chr9:95946249-95946734	MCF-7	breast:	n/a	n/a
13	MAX	chr9:95945985-95946853	H1-hESC	embryonic stem cell:	n/a	chr9:95946413-95946423
14	E2F6	chr9:95946067-95946865	A549	lung:	n/a	chr9:95946607-95946619 chr9:95946606-95946617 chr9:95946781-95946791
15	YY1	chr9:95946166-95946877	HepG2	liver:	n/a	chr9:95946448-95946459
16	MXI1	chr9:95946069-95946726	HepG2	liver:	n/a	n/a
17	E2F6	chr9:95946009-95946844	H1-hESC	embryonic stem cell:	n/a	chr9:95946607-95946619 chr9:95946606-95946617 chr9:95946781-95946791
18	YY1	chr9:95946432-95946730	ECC-1	luminal epithelium:	n/a	chr9:95946448-95946459
19	TAF1	chr9:95946294-95946732	H1-neurons	neurons:	n/a	n/a
20	MAX	chr9:95945962-95946939	HepG2	liver:	n/a	chr9:95946413-95946423
21	TCF7L2	chr9:95946664-95947024	Hela-S3	cervix:	n/a	n/a
22	MAX	chr9:95945830-95947338	HepG2	liver:	n/a	chr9:95946413-95946423
23	MAZ	chr9:95946336-95946903	Hela-S3	cervix:	n/a	chr9:95946413-95946423
24	CTBP2	chr9:95945756-95946998	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZBTB7A	chr9:95946222-95946825	K562	blood:	n/a	n/a
26	ZBTB7A	chr9:95946532-95947007	ECC-1	luminal epithelium:	n/a	n/a
27	TCF12	chr9:95946018-95946779	ECC-1	luminal epithelium:	n/a	n/a
28	TCF7L2	chr9:95946048-95946927	HCT-116	colon:	n/a	n/a
29	MAX	chr9:95945961-95946884	ECC-1	luminal epithelium:	n/a	chr9:95946413-95946423
30	POLR2A	chr9:95946295-95946763	PFSK-1	brain:	n/a	n/a
31	YY1	chr9:95946381-95946737	H1-hESC	embryonic stem cell:	n/a	chr9:95946448-95946459
32	ZNF263	chr9:95946430-95946997	HEK293-T-REx	kidney:	n/a	n/a
33	E2F6	chr9:95946192-95946779	K562	blood:	n/a	chr9:95946607-95946619 chr9:95946606-95946617
34	MAX	chr9:95945819-95946876	HCT-116	colon:	n/a	chr9:95946413-95946423
35	E2F6	chr9:95946248-95946757	K562	blood:	n/a	chr9:95946607-95946619 chr9:95946606-95946617
36	MAX	chr9:95945813-95946885	MCF-7	breast:	n/a	chr9:95946413-95946423
37	POLR2A	chr9:95946087-95947453	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr9:95946222-95947011	HepG2	liver:	n/a	n/a
39	E2F6	chr9:95946247-95946741	A549	lung:	n/a	chr9:95946607-95946619 chr9:95946606-95946617
40	MAX	chr9:95945838-95946889	A549	lung:	n/a	chr9:95946413-95946423
41	TAF1	chr9:95945984-95946765	ECC-1	luminal epithelium:	n/a	n/a
42	MXI1	chr9:95945228-95947541	SK-N-SH	brain:	n/a	n/a
43	MAX	chr9:95946175-95946745	HepG2	liver:	n/a	chr9:95946413-95946423
44	POLR2A	chr9:95946352-95946820	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr9:95946248-95947104	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:95945010..95947116-chr9:96042384..96044882,2	MCF-7	breast:
2	chr9:95856307..95858930-chr9:95945344..95947454,2	MCF-7	breast:
3	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:113 , 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	chr9:95946000-95946800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
9	chr9:95946000-95946800	Flanking Bivalent TSS/Enh	HMEC	breast
10	chr9:95946000-95946800	Bivalent/Poised TSS	NHEK	skin
11	chr9:95946000-95947000	Active TSS	Fetal Kidney	kidney
12	chr9:95946000-95947200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:95946000-95947200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr9:95946000-95947200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:95946000-95947200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:95946000-95947200	Flanking Active TSS	Lung	lung
17	chr9:95946000-95947200	Active TSS	A549	lung
18	chr9:95946000-95947200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
19	chr9:95946000-95947400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:95946000-95947400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:95946000-95947400	Active TSS	Aorta	Aorta
22	chr9:95946000-95947400	Flanking Bivalent TSS/Enh	Thymus	Thymus
23	chr9:95946000-95947400	Flanking Active TSS	Spleen	Spleen
24	chr9:95946000-95947800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:95946000-95948000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:95946000-95948200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr9:95946200-95946800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:95946200-95946800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:95946200-95946800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr9:95946200-95946800	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
31	chr9:95946200-95946800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr9:95946200-95946800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr9:95946200-95946800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:95946200-95946800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:95946200-95946800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
36	chr9:95946200-95946800	Bivalent/Poised TSS	HSMM	muscle
37	chr9:95946200-95946800	Active TSS	K562	blood
38	chr9:95946200-95947000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr9:95946200-95947000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
40	chr9:95946200-95947000	Active TSS	Fetal Intestine Small	intestine
41	chr9:95946200-95947200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr9:95946200-95947200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
43	chr9:95946200-95947200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
44	chr9:95946200-95947200	Active TSS	Pancreas	Pancrea
45	chr9:95946200-95947200	Active TSS	Hela-S3	cervix
46	chr9:95946200-95947400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr9:95946200-95947400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:95946200-95947400	Active TSS	Primary T cells from cord blood	blood
49	chr9:95946200-95947400	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr9:95946200-95947400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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