Variant report

Variant	rs144034830
Chromosome Location	chr4:166247584-166247585
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	ZC3H11A	chr4:166246811-166247661	K562	blood:	n/a	n/a
2	POLR2A	chr4:166246698-166247590	HUVEC	blood vessel:	n/a	n/a
3	ARID3A	chr4:166247006-166247696	K562	blood:	n/a	n/a
4	POLR2A	chr4:166247554-166249174	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr4:166246756-166254107	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr4:166246917-166247683	K562	blood:	n/a	n/a
7	POLR2A	chr4:166246495-166247678	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr4:166246905-166247594	IMR90	lung:	n/a	n/a
9	POLR2A	chr4:166246470-166247660	HCT-116	colon:	n/a	n/a
10	GATA1	chr4:166246030-166247702	PBDE	blood:	n/a	n/a
11	JUN	chr4:166246929-166247929	K562	blood:	n/a	n/a
12	MAFF	chr4:166246801-166247712	K562	blood:	n/a	chr4:166247135-166247153 chr4:166247160-166247178
13	JUN	chr4:166245200-166249708	K562	blood:	n/a	chr4:166248765-166248774 chr4:166248995-166249004
14	POLR2A	chr4:166247411-166247715	HepG2	liver:	n/a	n/a
15	SREBP2	chr4:166247205-166250483	GM12878	blood:	n/a	n/a
16	RCOR1	chr4:166247503-166247627	GM12878	blood:	n/a	n/a
17	ZMIZ1	chr4:166247045-166247634	K562	blood:	n/a	n/a
18	POLR2A	chr4:166247085-166250539	HepG2	liver:	n/a	n/a
19	TBL1XR1	chr4:166246865-166247924	K562	blood:	n/a	n/a
20	MYBL2	chr4:166246978-166247600	HepG2	liver:	n/a	n/a
21	POLR2A	chr4:166246538-166254097	GM12891	blood:	n/a	n/a
22	POLR2A	chr4:166246445-166267299	K562	blood:	n/a	n/a
23	IRF1	chr4:166247023-166249463	K562	blood:	n/a	chr4:166248819-166248833 chr4:166248634-166248643 chr4:166248760-166248774 chr4:166248565-166248579
24	POLR2A	chr4:166247484-166249930	Raji	blood:	n/a	n/a
25	SP1	chr4:166246631-166247631	HCT-116	colon:	n/a	n/a
26	TEAD4	chr4:166246799-166247614	K562	blood:	n/a	n/a
27	RCOR1	chr4:166246261-166247869	K562	blood:	n/a	n/a
28	CBX3	chr4:166246426-166247773	HCT-116	colon:	n/a	n/a
29	BACH1	chr4:166246628-166247753	K562	blood:	n/a	n/a
30	EP300	chr4:166246763-166249217	K562	blood:	n/a	chr4:166249000-166249016 chr4:166248457-166248466
31	POLR2A	chr4:166246765-166249522	K562	blood:	n/a	n/a
32	BACH1	chr4:166246888-166249025	H1-hESC	embryonic stem cell:	n/a	n/a
33	JUND	chr4:166246731-166247756	HCT-116	colon:	n/a	chr4:166247135-166247146 chr4:166247160-166247171
34	POLR2A	chr4:166246835-166249276	K562	blood:	n/a	n/a
35	POLR2A	chr4:166246431-166249506	IMR90	lung:	n/a	n/a
36	POLR2A	chr4:166247494-166247794	GM12878	blood:	n/a	n/a
37	MYC	chr4:166246884-166247721	K562	blood:	n/a	n/a
38	POLR2A	chr4:166247265-166247590	SK-N-SH	brain:	n/a	n/a
39	CBX3	chr4:166246619-166247821	HCT-116	colon:	n/a	n/a
40	JUN	chr4:166246991-166247631	K562	blood:	n/a	n/a
41	MAFK	chr4:166245706-166247638	K562	blood:	n/a	chr4:166246254-166246268 chr4:166246253-166246269 chr4:166246261-166246272 chr4:166246259-166246273 chr4:166245843-166245858 chr4:166246260-166246271 chr4:166246256-166246272 chr4:166246256-166246271 chr4:166246261-166246272 chr4:166246251-166246271 chr4:166246260-166246271
42	FOS	chr4:166246905-166247634	MCF10A-Er-Src	breast:	n/a	chr4:166247160-166247171 chr4:166247135-166247146
43	POLR2A	chr4:166247160-166250782	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr4:166247128-166249388	HepG2	liver:	n/a	n/a
45	POLR2A	chr4:166246538-166247870	PBDE	blood:	n/a	n/a
46	TEAD4	chr4:166246908-166247737	HepG2	liver:	n/a	n/a
47	RCOR1	chr4:166247039-166247756	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:166033254..166035775-chr4:166247057..166248909,2	MCF-7	breast:
2	chr4:166127386..166130072-chr4:166247171..166250406,6	MCF-7	breast:
3	chr4:166127276..166130366-chr4:166247405..166250443,3	K562	blood:
4	chr4:166128531..166130929-chr4:166246215..166249595,5	MCF-7	breast:
5	chr4:166126308..166130366-chr4:166247405..166251145,5	K562	blood:

Variant related genes	Relation type
MSMO1	TF binding region
ENSG00000170088	Chromatin interaction
ENSG00000109466	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv3422247	chr4:166247552-166250050	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166220000-166247800	Weak transcription	Right Ventricle	heart
2	chr4:166223400-166247600	Weak transcription	Thymus	Thymus
3	chr4:166223400-166247800	Weak transcription	Aorta	Aorta
4	chr4:166223400-166248000	Weak transcription	Gastric	stomach
5	chr4:166223600-166247600	Weak transcription	Fetal Lung	lung
6	chr4:166223800-166247600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:166224200-166247600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:166224400-166247600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr4:166233000-166248000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr4:166233400-166247600	Weak transcription	Adipose Nuclei	Adipose
11	chr4:166233400-166247800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:166233400-166248000	Weak transcription	Left Ventricle	heart
13	chr4:166234000-166247600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:166241000-166247800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:166241800-166247600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr4:166245400-166247600	Enhancers	HMEC	breast
17	chr4:166245800-166247600	Enhancers	Fetal Intestine Large	intestine
18	chr4:166246400-166247600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:166246600-166247600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr4:166246600-166247600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr4:166246600-166247600	Enhancers	Psoas Muscle	Psoas
22	chr4:166246600-166247800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:166246600-166247800	Enhancers	Esophagus	oesophagus
24	chr4:166246600-166248000	Enhancers	Placenta	Placenta
25	chr4:166246600-166248000	Enhancers	Pancreas	Pancrea
26	chr4:166246800-166247600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr4:166246800-166247800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:166246800-166247800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:166246800-166247800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr4:166246800-166247800	Enhancers	Ovary	ovary
31	chr4:166246800-166247800	Flanking Active TSS	K562	blood
32	chr4:166246800-166248000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr4:166246800-166248000	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr4:166246800-166248200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:166247000-166247600	Enhancers	Primary B cells from cord blood	blood
36	chr4:166247000-166247600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:166247000-166247600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:166247000-166247800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:166247000-166247800	Enhancers	Spleen	Spleen
40	chr4:166247000-166247800	Flanking Active TSS	HepG2	liver
41	chr4:166247000-166248000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:166247000-166248000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:166247000-166248000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:166247000-166248000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr4:166247000-166248000	Flanking Active TSS	Hela-S3	cervix
46	chr4:166247000-166248000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr4:166247000-166251600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:166247200-166247600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr4:166247200-166247600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr4:166247200-166247600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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