Variant report

Variant	rs538343203
Chromosome Location	chr9:137001418-137001419
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	chr9:137000391-137001959	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr9:136999908-137002325	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr9:136999899-137003166	HepG2	liver:	n/a	n/a
4	POLR2A	chr9:136999821-137001428	K562	blood:	n/a	n/a
5	CHD2	chr9:137000385-137001992	Hela-S3	cervix:	n/a	chr9:137001849-137001859 chr9:137001156-137001166
6	POLR2A	chr9:137000331-137002161	GM12878	blood:	n/a	n/a
7	HEY1	chr9:137000108-137001522	HepG2	liver:	n/a	chr9:137000546-137000561 chr9:137001328-137001343 chr9:137001359-137001374 chr9:137001202-137001217 chr9:137000612-137000627
8	POLR2A	chr9:136999710-137001492	K562	blood:	n/a	n/a
9	YY1	chr9:137000216-137001551	HepG2	liver:	n/a	chr9:137000546-137000557 chr9:137001204-137001218 chr9:137001220-137001234 chr9:137001203-137001214 chr9:137001158-137001167 chr9:137001203-137001212 chr9:137001206-137001215
10	POLR2A	chr9:137000193-137002010	GM19099	blood:	n/a	n/a
11	ZBTB7A	chr9:137001352-137001841	K562	blood:	n/a	n/a
12	POLR2A	chr9:137000031-137001443	HepG2	liver:	n/a	n/a
13	POLR2A	chr9:137000202-137001903	HUVEC	blood vessel:	n/a	n/a
14	MXI1	chr9:137000606-137001519	Hela-S3	cervix:	n/a	n/a
15	HCFC1	chr9:136999632-137002548	Hela-S3	cervix:	n/a	n/a
16	MAX	chr9:137000250-137001676	A549	lung:	n/a	n/a
17	EGR1	chr9:137001398-137001708	K562	blood:	n/a	chr9:137001531-137001545 chr9:137001549-137001563
18	NRF1	chr9:137000231-137001496	SK-N-SH	brain:	n/a	chr9:137000877-137000888 chr9:137000507-137000516 chr9:137001185-137001199 chr9:137001188-137001197 chr9:137001188-137001199 chr9:137001158-137001167 chr9:137001188-137001202
19	POLR2A	chr9:136999748-137001441	ECC-1	luminal epithelium:	n/a	n/a
20	MAX	chr9:137000243-137001574	K562	blood:	n/a	n/a
21	MYC	chr9:137000114-137001788	Hela-S3	cervix:	n/a	n/a
22	BHLHE40	chr9:137000742-137001481	K562	blood:	n/a	chr9:137001217-137001233 chr9:137001329-137001345
23	E2F6	chr9:137000431-137001627	K562	blood:	n/a	chr9:137001611-137001618 chr9:137001255-137001266 chr9:137000507-137000516 chr9:137000592-137000604 chr9:137001189-137001198 chr9:137001611-137001618 chr9:137000460-137000470 chr9:137001206-137001215 chr9:137001611-137001618 chr9:137001331-137001341 chr9:137001158-137001167 chr9:137000620-137000630
24	POLR2A	chr9:137000422-137001451	PANC-1	pancreas:	n/a	n/a
25	E2F4	chr9:137000444-137001471	K562	blood:	n/a	chr9:137000507-137000516 chr9:137000592-137000604 chr9:137001189-137001198 chr9:137001043-137001054 chr9:137000460-137000470 chr9:137001206-137001215 chr9:137001331-137001341 chr9:137001158-137001167 chr9:137000620-137000630
26	MAZ	chr9:136999891-137002028	IMR90	lung:	n/a	n/a
27	POLR2A	chr9:137000305-137001488	ProgFib	skin:	n/a	n/a
28	MAZ	chr9:137000403-137002087	Hela-S3	cervix:	n/a	n/a
29	ZBTB7A	chr9:137001379-137002102	ECC-1	luminal epithelium:	n/a	n/a
30	HEY1	chr9:137000413-137001454	HepG2	liver:	n/a	chr9:137000546-137000561 chr9:137001328-137001343 chr9:137001359-137001374 chr9:137001202-137001217 chr9:137000612-137000627
31	POLR2A	chr9:137000091-137001435	GM12891	blood:	n/a	n/a
32	ZBTB7A	chr9:137000953-137001920	K562	blood:	n/a	n/a
33	POLR2A	chr9:137001159-137001421	HepG2	liver:	n/a	n/a
34	CCNT2	chr9:137000345-137002103	K562	blood:	n/a	chr9:137001158-137001167 chr9:137001178-137001187
35	MAX	chr9:137000339-137001609	SK-N-SH	brain:	n/a	n/a
36	MYC	chr9:137000786-137001573	HepG2	liver:	n/a	n/a
37	POLR2A	chr9:136999915-137001445	K562	blood:	n/a	n/a
38	MAX	chr9:136999774-137002094	HepG2	liver:	n/a	n/a
39	MYC	chr9:136999809-137002356	K562	blood:	n/a	n/a
40	E2F6	chr9:137000210-137001477	A549	lung:	n/a	chr9:137001255-137001266 chr9:137000507-137000516 chr9:137000592-137000604 chr9:137001189-137001198 chr9:137000460-137000470 chr9:137001206-137001215 chr9:137001331-137001341 chr9:137001158-137001167 chr9:137000620-137000630
41	MAX	chr9:137000137-137002048	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr9:137000186-137001482	GM12878	blood:	n/a	n/a
43	MXI1	chr9:136999981-137002268	IMR90	lung:	n/a	n/a
44	POLR2A	chr9:137000158-137001853	NB4	blood:	n/a	n/a
45	MAX	chr9:136999720-137002056	K562	blood:	n/a	n/a
46	POLR2A	chr9:136999871-137002175	MCF-7	breast:	n/a	n/a
47	POLR2A	chr9:137000363-137001817	HepG2	liver:	n/a	n/a
48	MXI1	chr9:137000479-137001431	HepG2	liver:	n/a	n/a
49	MAX	chr9:137000151-137001493	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr9:137000196-137002064	GM18951	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:41236712..41238651-chr9:137001241..137003469,2	MCF-7	breast:
2	chr16:401149..403748-chr9:137000262..137001904,2	MCF-7	breast:
3	chr11:65194417..65195089-chr9:137001349..137002310,2	Hela-S3	cervix:
4	chr2:220091886..220094259-chr9:137000513..137003179,2	MCF-7	breast:
5	chr9:136930118..136934023-chr9:136998387..137002829,10	K562	blood:
6	chr9:136931194..136934944-chr9:136998387..137002829,6	K562	blood:
7	chr9:136999027..137003702-chr9:137026566..137032835,8	MCF-7	breast:
8	chr9:136930108..136935337-chr9:136999374..137002737,14	MCF-7	breast:
9	chr9:136919895..136922369-chr9:137000361..137002123,2	MCF-7	breast:
10	chr9:136999035..137002778-chr9:137027888..137031331,5	K562	blood:
11	chr9:136282958..136284963-chr9:136998714..137001684,2	K562	blood:
12	chr9:136889824..136891845-chr9:137000522..137002324,2	K562	blood:
13	chr9:136928987..136935981-chr9:136998799..137005312,16	MCF-7	breast:
14	chr9:136888792..136891646-chr9:137000403..137003499,3	MCF-7	breast:
15	chr9:136999192..137001560-chr9:137216028..137218729,4	MCF-7	breast:
16	chr9:137000678..137001573-chr9:137029002..137029689,2	Hela-S3	cervix:
17	chr9:137000635..137002837-chr9:137296498..137299052,2	MCF-7	breast:

Variant related genes	Relation type
WDR5	TF binding region
ENSG00000273249	TF binding region
ENSG00000198925	Chromatin interaction
ENSG00000221676	Chromatin interaction
ENSG00000148300	Chromatin interaction
ENSG00000235106	Chromatin interaction
ENSG00000169925	Chromatin interaction
ENSG00000103126	Chromatin interaction
ENSG00000186350	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894138	chr9:136839840-137093168	Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv825148	chr9:136848471-137025632	Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1048571	chr9:136872166-137265444	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv894148	chr9:136874066-137093168	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv894151	chr9:136887757-137397609	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv6751	chr9:136967475-137007131	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv894155	chr9:136969689-137364866	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
8	esv1793302	chr9:136990615-137390602	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
9	esv3392543	chr9:137000156-137002904	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv3444727	chr9:137000331-137002454	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136999400-137001600	Active TSS	Colonic Mucosa	Colon
2	chr9:136999600-137002000	Active TSS	Lung	lung
3	chr9:136999600-137002400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr9:136999800-137001800	Active TSS	Gastric	stomach
5	chr9:136999800-137002000	Active TSS	Left Ventricle	heart
6	chr9:136999800-137002400	Active TSS	Fetal Kidney	kidney
7	chr9:136999800-137002600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr9:136999800-137002600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:137000000-137001600	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr9:137000000-137002000	Active TSS	Esophagus	oesophagus
11	chr9:137000000-137002000	Active TSS	Fetal Intestine Small	intestine
12	chr9:137000000-137002000	Active TSS	Psoas Muscle	Psoas
13	chr9:137000000-137002000	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr9:137000000-137002200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:137000000-137002200	Active TSS	Ovary	ovary
16	chr9:137000000-137002200	Active TSS	NHDF-Ad	bronchial
17	chr9:137000000-137002400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr9:137000200-137001600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:137000200-137001600	Active TSS	Primary T cells from cord blood	blood
20	chr9:137000200-137001600	Active TSS	Right Ventricle	heart
21	chr9:137000200-137001800	Active TSS	Brain Angular Gyrus	brain
22	chr9:137000200-137001800	Active TSS	Brain Substantia Nigra	brain
23	chr9:137000200-137001800	Active TSS	Fetal Brain Male	brain
24	chr9:137000200-137001800	Active TSS	Fetal Brain Female	brain
25	chr9:137000200-137002000	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr9:137000200-137002000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr9:137000200-137002000	Active TSS	Fetal Intestine Large	intestine
28	chr9:137000200-137002000	Active TSS	Fetal Lung	lung
29	chr9:137000200-137002000	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr9:137000200-137002000	Active TSS	Small Intestine	intestine
31	chr9:137000200-137002000	Active TSS	NHEK	skin
32	chr9:137000200-137002200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:137000200-137002200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:137000200-137002200	Active TSS	Colon Smooth Muscle	Colon
35	chr9:137000200-137002200	Active TSS	Pancreas	Pancrea
36	chr9:137000200-137002400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:137000200-137002400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr9:137000200-137002400	Active TSS	Aorta	Aorta
39	chr9:137000200-137002600	Active TSS	H9 Cell Line	embryonic stem cell
40	chr9:137000200-137002600	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr9:137000200-137002800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:137000200-137003200	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr9:137000400-137001600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:137000400-137001600	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr9:137000400-137001600	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr9:137000400-137001600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr9:137000400-137001600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr9:137000400-137001600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr9:137000400-137001600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr9:137000400-137001600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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