Variant report

Variant	rs35294871
Chromosome Location	chr9:117374002-117374003
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	HCFC1	chr9:117372765-117374497	K562	blood:	n/a	n/a
2	REST	chr9:117373927-117374235	PANC-1	pancreas:	n/a	chr9:117374136-117374145
3	RCOR1	chr9:117373898-117374626	Hela-S3	cervix:	n/a	n/a
4	STAT5A	chr9:117373830-117374580	GM12878	blood:	n/a	n/a
5	POLR2A	chr9:117373293-117374335	ECC-1	luminal epithelium:	n/a	n/a
6	TAF1	chr9:117373838-117374255	ECC-1	luminal epithelium:	n/a	n/a
7	SIN3AK20	chr9:117373853-117374312	SK-N-SH	brain:	n/a	n/a
8	REST	chr9:117373843-117374355	U87	brain:	n/a	chr9:117374136-117374145
9	REST	chr9:117373893-117374412	ECC-1	luminal epithelium:	n/a	chr9:117374136-117374145
10	POLR2A	chr9:117373411-117374220	Gliobla	brain:	n/a	n/a
11	PML	chr9:117373923-117374275	MCF-7	breast:	n/a	n/a
12	MAZ	chr9:117373281-117374501	Hela-S3	cervix:	n/a	chr9:117373514-117373521 chr9:117373512-117373522 chr9:117373568-117373577 chr9:117373513-117373523 chr9:117373513-117373522 chr9:117373512-117373523 chr9:117373514-117373523 chr9:117373511-117373524
13	ZKSCAN1	chr9:117373893-117374739	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr9:117373825-117374324	HCT-116	colon:	n/a	n/a
15	EBF1	chr9:117373894-117374264	GM12878	blood:	n/a	chr9:117374058-117374069
16	POLR2A	chr9:117373187-117375071	GM18505	blood:	n/a	n/a
17	MAX	chr9:117373192-117374396	SK-N-SH	brain:	n/a	chr9:117373514-117373521 chr9:117373512-117373522 chr9:117373568-117373577 chr9:117373513-117373523 chr9:117373513-117373522 chr9:117373512-117373523 chr9:117373514-117373523 chr9:117373511-117373524
18	POLR2A	chr9:117373828-117374369	SK-N-MC	brain:	n/a	n/a
19	MAX	chr9:117373043-117375259	MCF-7	breast:	n/a	chr9:117373514-117373521 chr9:117373512-117373522 chr9:117373568-117373577 chr9:117373513-117373523 chr9:117373513-117373522 chr9:117373512-117373523 chr9:117373514-117373523 chr9:117373511-117373524
20	POLR2A	chr9:117372694-117376306	GM12878	blood:	n/a	n/a
21	POLR2A	chr9:117372677-117374910	Hela-S3	cervix:	n/a	n/a
22	MXI1	chr9:117372626-117375023	SK-N-SH	brain:	n/a	n/a
23	MTA3	chr9:117373827-117376338	GM12878	blood:	n/a	n/a
24	POLR2A	chr9:117373133-117374299	K562	blood:	n/a	n/a
25	TEAD4	chr9:117373207-117374337	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr9:117373944-117374047	K562	blood:	n/a	n/a
27	POLR2A	chr9:117373358-117374240	A549	lung:	n/a	n/a
28	POLR2A	chr9:117372834-117374943	Raji	blood:	n/a	n/a
29	POLR2A	chr9:117372699-117374807	Hela-S3	cervix:	n/a	n/a
30	E2F6	chr9:117372787-117374298	K562	blood:	n/a	chr9:117373521-117373536 chr9:117373592-117373601 chr9:117373483-117373495
31	POLR2A	chr9:117372690-117375775	GM12878	blood:	n/a	n/a
32	ZBTB7A	chr9:117373244-117374154	K562	blood:	n/a	chr9:117374066-117374074
33	ZNF143	chr9:117373943-117374367	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr9:117372812-117374632	K562	blood:	n/a	n/a
35	POLR2A	chr9:117372678-117374603	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr9:117373305-117374244	HEK293	kidney:	n/a	n/a
37	EBF1	chr9:117373846-117374273	GM12878	blood:	n/a	chr9:117374058-117374069
38	TBP	chr9:117373033-117374735	K562	blood:	n/a	n/a
39	TBP	chr9:117373987-117374400	Hela-S3	cervix:	n/a	n/a
40	MAX	chr9:117373046-117374615	K562	blood:	n/a	chr9:117373514-117373521 chr9:117373512-117373522 chr9:117373568-117373577 chr9:117373513-117373523 chr9:117373513-117373522 chr9:117373512-117373523 chr9:117373514-117373523 chr9:117373511-117373524
41	POLR2A	chr9:117373179-117374465	GM18526	blood:	n/a	n/a
42	REST	chr9:117373968-117374250	K562	blood:	n/a	chr9:117374136-117374145
43	CUX1	chr9:117373999-117374199	GM12878	blood:	n/a	n/a
44	POLR2A	chr9:117373435-117374047	A549	lung:	n/a	n/a
45	REST	chr9:117373823-117374324	U87	brain:	n/a	chr9:117374136-117374145
46	TAF1	chr9:117373808-117374302	K562	blood:	n/a	n/a
47	PBX3	chr9:117373823-117374412	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr9:117372785-117374526	K562	blood:	n/a	n/a
49	REST	chr9:117373908-117374304	PANC-1	pancreas:	n/a	chr9:117374136-117374145
50	HCFC1	chr9:117372658-117375106	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:117349336..117350972-chr9:117372211..117374265,2	MCF-7	breast:
2	chr9:117373836..117375707-chr9:117400853..117402924,2	MCF-7	breast:
3	chr9:117291759..117293963-chr9:117373811..117375856,2	K562	blood:
4	chr9:117372326..117374917-chr9:117375396..117377851,3	K562	blood:
5	chr9:117189063..117191201-chr9:117373805..117375386,2	K562	blood:
6	chr9:117372569..117375010-chr9:117403560..117405565,3	MCF-7	breast:
7	chr9:117348104..117352194-chr9:117371141..117379325,14	K562	blood:
8	chr9:117373263..117374203-chr9:130186181..130186719,2	Hela-S3	cervix:
9	chr9:117346757..117362857-chr9:117372020..117377914,21	MCF-7	breast:
10	chr9:117262731..117268447-chr9:117369704..117378306,14	K562	blood:
11	chr9:117266234..117268906-chr9:117372659..117377270,6	K562	blood:
12	chr9:117265687..117267555-chr9:117372704..117375188,3	MCF-7	breast:
13	chr9:117346842..117352204-chr9:117370877..117374909,8	K562	blood:
14	chr9:117263907..117271703-chr9:117371218..117376768,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272241	TF binding region
ENSG00000136888	Chromatin interaction
ENSG00000196152	Chromatin interaction
ENSG00000157693	Chromatin interaction
ENSG00000095397	Chromatin interaction
ENSG00000201749	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051544	chr9:116944940-117443031	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
2	nsv540203	chr9:116944940-117443031	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv1048093	chr9:116945025-117456210	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
4	nsv1050991	chr9:116953739-117442999	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv1046311	chr9:116953739-117447142	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
6	nsv1052877	chr9:116953739-117456210	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv1039681	chr9:116953739-117457158	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
8	nsv1051987	chr9:116955841-117453668	Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
9	nsv1044374	chr9:116955841-117460150	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
10	nsv466534	chr9:116956268-117455810	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	157 gene(s)	inside rSNPs	diseases
11	nsv615234	chr9:116956268-117455810	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
12	nsv1048817	chr9:116957958-117456210	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
13	nsv615236	chr9:116958144-117455810	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
14	nsv466535	chr9:116958144-117456175	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
15	nsv615237	chr9:116958144-117456175	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
16	nsv615238	chr9:116958144-117458475	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
17	nsv430094	chr9:116958446-117456446	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
18	nsv1053756	chr9:116975934-117443031	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
19	nsv540204	chr9:116975934-117443031	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
20	nsv1047704	chr9:116978041-117399362	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
21	nsv540205	chr9:116978041-117399362	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
22	nsv530950	chr9:117009156-117399361	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
23	nsv916139	chr9:117009169-117399454	Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
24	nsv530951	chr9:117032675-117439804	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
25	nsv831694	chr9:117328640-117502785	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
26	esv3373120	chr9:117372756-117375304	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
27	esv1008480	chr9:117373830-117388680	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117369600-117374200	Weak transcription	Fetal Heart	heart
2	chr9:117372600-117374200	Active TSS	Brain Cingulate Gyrus	brain
3	chr9:117372800-117374200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:117372800-117374200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr9:117373000-117374200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr9:117373000-117374200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr9:117373000-117374200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr9:117373000-117374200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr9:117373200-117374200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr9:117373200-117374200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr9:117373200-117374200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:117373200-117374200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:117373200-117374200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr9:117373200-117374200	Active TSS	HSMM	muscle
15	chr9:117373200-117374400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:117373200-117374400	Active TSS	Brain Anterior Caudate	brain
17	chr9:117373200-117374400	Active TSS	Psoas Muscle	Psoas
18	chr9:117373200-117374600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:117373200-117374600	Active TSS	Left Ventricle	heart
20	chr9:117373200-117374600	Active TSS	Right Atrium	heart
21	chr9:117373200-117374800	Active TSS	Ovary	ovary
22	chr9:117373200-117375000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr9:117373400-117374200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:117373400-117374200	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr9:117373400-117374200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:117373400-117374200	Active TSS	Primary monocytes fromperipheralblood	blood
27	chr9:117373400-117374200	Active TSS	Primary B cells from peripheral blood	blood
28	chr9:117373400-117374200	Active TSS	Primary T cells from cord blood	blood
29	chr9:117373400-117374200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr9:117373400-117374200	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr9:117373400-117374200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:117373400-117374200	Active TSS	Brain Hippocampus Middle	brain
33	chr9:117373400-117374200	Active TSS	Duodenum Mucosa	Duodenum
34	chr9:117373400-117374200	Active TSS	Fetal Intestine Large	intestine
35	chr9:117373400-117374200	Active TSS	Fetal Intestine Small	intestine
36	chr9:117373400-117374200	Active TSS	Fetal Lung	lung
37	chr9:117373400-117374200	Active TSS	Fetal Muscle Trunk	muscle
38	chr9:117373400-117374200	Active TSS	Fetal Muscle Leg	muscle
39	chr9:117373400-117374200	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr9:117373400-117374200	Active TSS	A549	lung
41	chr9:117373400-117374200	Active TSS	HSMMtube	muscle
42	chr9:117373400-117374400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr9:117373400-117374400	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr9:117373400-117374400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr9:117373400-117374400	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr9:117373400-117374400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr9:117373400-117374400	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr9:117373400-117374400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr9:117373400-117374400	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr9:117373400-117374400	Active TSS	Brain Substantia Nigra	brain

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