Variant report

Variant	rs541353380
Chromosome Location	chr2:74210690-74210691
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	TAF1	chr2:74210498-74211836	ECC-1	luminal epithelium:	n/a	n/a
2	MYC	chr2:74210527-74210797	NB4	blood:	n/a	n/a
3	FOXM1	chr2:74210662-74211759	MCF-7	breast:	n/a	n/a
4	YY1	chr2:74210463-74210999	GM12878	blood:	n/a	chr2:74210633-74210645 chr2:74210634-74210656
5	YY1	chr2:74210480-74211106	HCT-116	colon:	n/a	chr2:74210633-74210645 chr2:74210634-74210656
6	POLR2A	chr2:74210578-74212297	GM12892	blood:	n/a	n/a
7	PML	chr2:74210348-74212317	GM12878	blood:	n/a	n/a
8	TCF7L2	chr2:74210640-74212797	HCT-116	colon:	n/a	n/a
9	MYC	chr2:74210632-74211372	MCF10A-Er-Src	breast:	n/a	chr2:74211332-74211342 chr2:74211170-74211180
10	YY1	chr2:74210505-74211372	ECC-1	luminal epithelium:	n/a	chr2:74210633-74210645 chr2:74210634-74210656
11	YY1	chr2:74210529-74211103	HepG2	liver:	n/a	chr2:74210633-74210645 chr2:74210634-74210656
12	EP300	chr2:74210555-74211719	ECC-1	luminal epithelium:	n/a	chr2:74210842-74210858 chr2:74211646-74211659 chr2:74211611-74211620
13	TCF12	chr2:74210567-74211386	MCF-7	breast:	n/a	chr2:74210980-74210990
14	EGR1	chr2:74210522-74211263	ECC-1	luminal epithelium:	n/a	chr2:74210648-74210663 chr2:74210888-74210895 chr2:74210644-74210659
15	CTCF	chr2:74210540-74210690	GM12871	blood:	n/a	n/a
16	MYBL2	chr2:74210438-74211583	HepG2	liver:	n/a	n/a
17	EP300	chr2:74210516-74212461	ECC-1	luminal epithelium:	n/a	chr2:74212012-74212028 chr2:74211731-74211747 chr2:74210842-74210858 chr2:74211646-74211659 chr2:74211611-74211620
18	MYBL2	chr2:74210323-74210971	HepG2	liver:	n/a	n/a
19	SRF	chr2:74210592-74211444	ECC-1	luminal epithelium:	n/a	n/a
20	MAX	chr2:74210469-74212298	MCF-7	breast:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74211332-74211342 chr2:74211170-74211180 chr2:74212007-74212018 chr2:74212007-74212018
21	E2F6	chr2:74210614-74212293	H1-hESC	embryonic stem cell:	n/a	chr2:74212028-74212040 chr2:74212028-74212037
22	IRF3	chr2:74210623-74210771	GM12878	blood:	n/a	n/a
23	YY1	chr2:74210482-74210800	GM12892	blood:	n/a	chr2:74210633-74210645 chr2:74210634-74210656
24	YY1	chr2:74210504-74211412	ECC-1	luminal epithelium:	n/a	chr2:74210633-74210645 chr2:74210634-74210656
25	POLR2A	chr2:74210681-74210784	K562	blood:	n/a	n/a
26	POLR2A	chr2:74208051-74212199	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr2:74210597-74212385	MCF-7	breast:	n/a	n/a
28	MBD4	chr2:74210485-74211632	HepG2	liver:	n/a	n/a
29	MAZ	chr2:74210557-74210789	K562	blood:	n/a	n/a
30	ZNF263	chr2:74210542-74211636	HEK293-T-REx	kidney:	n/a	n/a
31	MYC	chr2:74210582-74210739	K562	blood:	n/a	n/a
32	RAD21	chr2:74210421-74211753	ECC-1	luminal epithelium:	n/a	chr2:74211604-74211618 chr2:74211730-74211743 chr2:74211603-74211622 chr2:74211558-74211572
33	YY1	chr2:74210542-74210793	GM12892	blood:	n/a	chr2:74210633-74210645 chr2:74210634-74210656
34	MYC	chr2:74210151-74213343	A549	lung:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74211332-74211342 chr2:74211170-74211180 chr2:74213042-74213061 chr2:74212007-74212018 chr2:74212007-74212018
35	FOXM1	chr2:74210473-74211515	MCF-7	breast:	n/a	n/a
36	SIN3AK20	chr2:74210531-74211045	H1-hESC	embryonic stem cell:	n/a	n/a
37	STAT1	chr2:74210627-74210874	GM12878	blood:	n/a	chr2:74210649-74210661
38	POLR2A	chr2:74210667-74212281	HCT-116	colon:	n/a	n/a
39	NFIC	chr2:74210489-74211787	HepG2	liver:	n/a	n/a
40	EP300	chr2:74210612-74210867	GM12878	blood:	n/a	chr2:74210842-74210858
41	CTCF	chr2:74210580-74210730	GM12866	blood:	n/a	n/a
42	MAX	chr2:74210571-74210755	K562	blood:	n/a	n/a
43	MAX	chr2:74210609-74212184	GM12878	blood:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74211332-74211342 chr2:74211170-74211180 chr2:74212007-74212018 chr2:74212007-74212018
44	TEAD4	chr2:74210688-74211315	MCF-7	breast:	n/a	n/a
45	RAD21	chr2:74210453-74211327	H1-hESC	embryonic stem cell:	n/a	n/a
46	ZBTB33	chr2:74210628-74211268	HCT-116	colon:	n/a	n/a
47	RAD21	chr2:74210553-74211309	MCF-7	breast:	n/a	n/a
48	SIN3AK20	chr2:74210487-74211605	HCT-116	colon:	n/a	n/a
49	CTCF	chr2:74210540-74210830	HMEC	breast:	n/a	n/a
50	PML	chr2:74210636-74211406	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:74209551..74211458-chr6:30582757..30584822,2	MCF-7	breast:
2	chr2:74194837..74202788-chr2:74203103..74212249,15	K562	blood:
3	chr2:74210581..74214263-chr2:74424560..74427104,3	K562	blood:
4	chr2:74177818..74179521-chr2:74208626..74211088,2	MCF-7	breast:
5	chr2:74187365..74198553-chr2:74205167..74212961,17	MCF-7	breast:
6	chr2:74052797..74060455-chr2:74207744..74214705,21	MCF-7	breast:
7	chr2:74151695..74161558-chr2:74205273..74215127,19	K562	blood:
8	chr2:74209447..74211523-chr2:74377686..74379947,2	MCF-7	breast:
9	chr2:74210159..74214364-chr2:74424247..74427320,6	MCF-7	breast:
10	chr2:74209442..74213118-chr2:74372270..74377274,6	MCF-7	breast:
11	chr2:74006477..74008068-chr2:74209603..74212198,2	MCF-7	breast:
12	chr2:74151187..74158039-chr2:74203173..74216266,29	MCF-7	breast:
13	chr2:74209964..74211607-chr2:74281437..74283507,2	K562	blood:
14	chr2:74210080..74211906-chr2:74412687..74415534,2	MCF-7	breast:
15	chr2:74209535..74211828-chr2:97552282..97555129,2	MCF-7	breast:
16	chr2:74152462..74158334-chr2:74210550..74216243,8	K562	blood:
17	chr2:74210101..74212862-chr2:74733390..74736109,2	K562	blood:
18	chr2:74171083..74173536-chr2:74209389..74211761,2	K562	blood:
19	chr13:25824565..25826154-chr2:74209246..74210998,2	MCF-7	breast:
20	chr2:74209118..74215634-chr2:74424964..74427991,9	MCF-7	breast:
21	chr2:74175475..74176994-chr2:74209729..74212006,2	MCF-7	breast:
22	chr2:74209066..74214459-chr2:74345671..74349502,5	K562	blood:
23	chr2:74147649..74157677-chr2:74203379..74217813,34	MCF-7	breast:
24	chr2:74209217..74211366-chr2:74294188..74296510,3	MCF-7	breast:
25	chr2:74055755..74057848-chr2:74210321..74213795,3	MCF-7	breast:
26	chr2:74210601..74212361-chr2:74374459..74376721,2	MCF-7	breast:
27	chr2:70312056..70313801-chr2:74209899..74211567,2	MCF-7	breast:
28	chr2:74209017..74213063-chr2:74345530..74349441,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235499	TF binding region
DGUOK-AS1	TF binding region
ENSG00000255989	TF binding region
ENSG00000065911	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000144048	Chromatin interaction
ENSG00000115289	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000179818	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000201876	Chromatin interaction
ENSG00000124356	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	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv3444943	chr2:74210644-74214042	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr2:74206800-74211400	Flanking Active TSS	NHEK	skin
2	chr2:74208600-74211000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:74208600-74211000	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr2:74208600-74211000	Enhancers	Fetal Heart	heart
5	chr2:74208600-74211200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr2:74208800-74210800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:74208800-74210800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr2:74208800-74210800	Enhancers	Primary hematopoietic stem cells	blood
9	chr2:74208800-74210800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:74208800-74210800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr2:74208800-74210800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:74208800-74210800	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr2:74208800-74211000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:74208800-74211000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:74209000-74210800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:74209000-74210800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:74209000-74210800	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:74209000-74210800	Enhancers	Placenta	Placenta
19	chr2:74209000-74210800	Weak transcription	Spleen	Spleen
20	chr2:74209000-74211400	Weak transcription	Ovary	ovary
21	chr2:74209200-74210800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:74209200-74210800	Enhancers	A549	lung
23	chr2:74209200-74210800	Weak transcription	HUVEC	blood vessel
24	chr2:74209200-74210800	Enhancers	K562	blood
25	chr2:74209200-74211000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:74209200-74211000	Weak transcription	Brain Angular Gyrus	brain
27	chr2:74209200-74211200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:74209200-74211400	Weak transcription	Aorta	Aorta
29	chr2:74209400-74210800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:74209400-74210800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:74209400-74211000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:74209600-74210800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:74209800-74210800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:74209800-74210800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr2:74209800-74210800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:74209800-74210800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:74209800-74210800	Weak transcription	Left Ventricle	heart
38	chr2:74209800-74210800	Weak transcription	Psoas Muscle	Psoas
39	chr2:74209800-74210800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:74209800-74210800	Weak transcription	HSMM	muscle
41	chr2:74209800-74210800	Weak transcription	NHLF	lung
42	chr2:74209800-74211000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:74209800-74211000	Weak transcription	Lung	lung
44	chr2:74210000-74210800	Weak transcription	Gastric	stomach
45	chr2:74210000-74211000	Bivalent Enhancer	Fetal Lung	lung
46	chr2:74210000-74211000	Weak transcription	HSMMtube	muscle
47	chr2:74210000-74211200	Weak transcription	Right Ventricle	heart
48	chr2:74210000-74211200	Weak transcription	Small Intestine	intestine
49	chr2:74210200-74210800	Enhancers	Primary B cells from cord blood	blood
50	chr2:74210200-74211200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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