Variant report

Variant	rs555848826
Chromosome Location	chr3:120067087-120067088
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	MYC	chr3:120066830-120067540	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr3:120066869-120068791	NB4	blood:	n/a	chr3:120068105-120068114
3	POLR2A	chr3:120067071-120067168	ProgFib	skin:	n/a	n/a
4	MAX	chr3:120066805-120068834	MCF-7	breast:	n/a	chr3:120068105-120068114
5	MXI1	chr3:120066827-120068840	IMR90	lung:	n/a	n/a
6	MYC	chr3:120066855-120067388	K562	blood:	n/a	n/a
7	SIN3AK20	chr3:120066798-120068929	MCF-7	breast:	n/a	n/a
8	MYC	chr3:120066951-120068859	K562	blood:	n/a	chr3:120068105-120068114
9	E2F4	chr3:120066795-120067097	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr3:120066885-120069038	Raji	blood:	n/a	n/a
11	USF2	chr3:120067039-120067152	HepG2	liver:	n/a	n/a
12	WRNIP1	chr3:120066821-120067560	GM12878	blood:	n/a	n/a
13	MXI1	chr3:120066551-120069108	SK-N-SH	brain:	n/a	n/a
14	SPI1	chr3:120066993-120067240	GM12891	blood:	n/a	n/a
15	MAX	chr3:120066844-120068911	NB4	blood:	n/a	chr3:120068105-120068114 chr3:120068883-120068891
16	SIN3A	chr3:120066988-120068791	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr3:120066901-120069051	GM12891	blood:	n/a	n/a
18	KAP1	chr3:120066868-120068943	HEK293	kidney:	n/a	chr3:120067085-120067093 chr3:120067478-120067486
19	MAZ	chr3:120066913-120068825	IMR90	lung:	n/a	chr3:120068105-120068114
20	MAX	chr3:120066837-120067483	K562	blood:	n/a	n/a
21	CHD2	chr3:120066801-120068698	GM12878	blood:	n/a	chr3:120068298-120068308 chr3:120068303-120068313
22	MAX	chr3:120066985-120067365	H1-hESC	embryonic stem cell:	n/a	n/a
23	TBP	chr3:120066937-120068777	K562	blood:	n/a	n/a
24	POLR2A	chr3:120067070-120067175	MCF-7	breast:	n/a	n/a
25	MAX	chr3:120066884-120068926	Hela-S3	cervix:	n/a	chr3:120068105-120068114 chr3:120068883-120068891
26	BHLHE40	chr3:120066893-120067229	HepG2	liver:	n/a	n/a
27	MAX	chr3:120066854-120068940	A549	lung:	n/a	chr3:120068105-120068114 chr3:120068883-120068891
28	POLR2A	chr3:120066940-120068809	Hela-S3	cervix:	n/a	n/a
29	MXI1	chr3:120066893-120069676	Hela-S3	cervix:	n/a	n/a
30	TFAP2C	chr3:120066972-120069000	Hela-S3	cervix:	n/a	chr3:120067547-120067562 chr3:120067526-120067541
31	MYC	chr3:120066974-120068778	Hela-S3	cervix:	n/a	chr3:120068105-120068114
32	POLR2A	chr3:120066947-120068958	GM12878	blood:	n/a	n/a
33	RCOR1	chr3:120066990-120069014	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr3:120066965-120068939	GM12878	blood:	n/a	n/a
35	POLR2A	chr3:120067071-120068781	GM18526	blood:	n/a	n/a
36	EBF1	chr3:120066958-120067184	GM12878	blood:	n/a	n/a
37	MAX	chr3:120066845-120069807	Hela-S3	cervix:	n/a	chr3:120069398-120069407 chr3:120069399-120069408 chr3:120068105-120068114 chr3:120068883-120068891
38	USF2	chr3:120066866-120067182	Hela-S3	cervix:	n/a	n/a
39	SPI1	chr3:120067001-120067244	GM12878	blood:	n/a	n/a
40	MAX	chr3:120066912-120067123	K562	blood:	n/a	n/a
41	BHLHE40	chr3:120067044-120068980	GM12878	blood:	n/a	n/a
42	BHLHE40	chr3:120066919-120069062	K562	blood:	n/a	n/a
43	POLR2A	chr3:120066898-120068792	HL-60	blood:	n/a	n/a
44	TCF7L2	chr3:120067010-120068979	Hela-S3	cervix:	n/a	n/a
45	RFX5	chr3:120066983-120069694	Hela-S3	cervix:	n/a	chr3:120069394-120069402
46	MXI1	chr3:120066821-120069022	GM12878	blood:	n/a	n/a
47	MXI1	chr3:120066977-120068610	HepG2	liver:	n/a	n/a
48	POLR2A	chr3:120066856-120069020	HepG2	liver:	n/a	n/a
49	TBP	chr3:120067077-120069867	Hela-S3	cervix:	n/a	n/a
50	MAX	chr3:120066828-120068854	HepG2	liver:	n/a	chr3:120068105-120068114

No.	Distal block	Cell Line	Cell type
1	chr3:119962878..119965844-chr3:120065668..120069448,4	MCF-7	breast:
2	chr3:120066931..120069030-chr3:120314504..120317461,2	MCF-7	breast:
3	chr3:120055756..120058586-chr3:120065980..120068170,2	K562	blood:
4	chr3:119813314..119815193-chr3:120066557..120069483,2	MCF-7	breast:
5	chr3:120066981..120069399-chr3:120202784..120204698,2	MCF-7	breast:
6	chr3:120066130..120068617-chr3:120117930..120119437,2	K562	blood:
7	chr3:119811895..119815177-chr3:120067061..120069801,4	K562	blood:
8	chr3:120066467..120068992-chr3:120105411..120108399,2	MCF-7	breast:
9	chr3:120002820..120005702-chr3:120066388..120068289,2	MCF-7	breast:
10	chr3:119810967..119815661-chr3:120066752..120069801,5	K562	blood:

Variant related genes	Relation type
ENSG00000240661	TF binding region
ENSG00000175697	Chromatin interaction
ENSG00000065518	Chromatin interaction
ENSG00000242613	Chromatin interaction
ENSG00000240774	Chromatin interaction
ENSG00000082701	Chromatin interaction
ENSG00000242622	Chromatin interaction
ENSG00000163430	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
6	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv829698	chr3:119960869-120129126	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv236293	chr3:120066250-120069861	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
12	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
14	nsv3968	chr3:120066454-120111463	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr3:120026800-120067200	Weak transcription	Aorta	Aorta
2	chr3:120065200-120067200	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr3:120066400-120067200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr3:120066400-120067600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:120066600-120067200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:120066600-120067200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:120066600-120067200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:120066600-120067200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:120066600-120067200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr3:120066600-120067200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr3:120066600-120067200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:120066600-120067200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:120066600-120067200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr3:120066600-120067200	Flanking Active TSS	Fetal Stomach	stomach
15	chr3:120066600-120067200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr3:120066600-120067200	Flanking Active TSS	Hela-S3	cervix
17	chr3:120066600-120067400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:120066600-120067400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:120066600-120067400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr3:120066600-120067400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr3:120066600-120067400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:120066600-120067400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr3:120066600-120067400	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr3:120066600-120067400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:120066600-120067400	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr3:120066600-120067400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr3:120066600-120067400	Flanking Active TSS	Fetal Brain Female	brain
28	chr3:120066600-120067400	Flanking Active TSS	K562	blood
29	chr3:120066600-120067400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr3:120066600-120067400	Flanking Active TSS	NHEK	skin
31	chr3:120066600-120067600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:120066600-120067600	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr3:120066600-120067600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr3:120066600-120069000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr3:120066600-120069000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:120066600-120069000	Active TSS	Right Atrium	heart
37	chr3:120066600-120069200	Active TSS	NHLF	lung
38	chr3:120066600-120069400	Active TSS	Ovary	ovary
39	chr3:120066800-120067200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr3:120066800-120067200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
41	chr3:120066800-120067200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
42	chr3:120066800-120067200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr3:120066800-120067200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:120066800-120067200	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr3:120066800-120067200	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr3:120066800-120067200	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr3:120066800-120067200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr3:120066800-120067200	Flanking Active TSS	Fetal Heart	heart
49	chr3:120066800-120067200	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr3:120066800-120067200	Flanking Active TSS	Fetal Intestine Small	intestine

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