Variant report

Variant	rs567664147
Chromosome Location	chr2:97481719-97481720
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	EGR1	chr2:97481597-97482456	K562	blood:	n/a	chr2:97481897-97481910 chr2:97482282-97482296 chr2:97481898-97481907 chr2:97481896-97481910 chr2:97481896-97481911 chr2:97481897-97481910 chr2:97481902-97481912 chr2:97481894-97481908 chr2:97482256-97482270 chr2:97481897-97481907 chr2:97481897-97481910 chr2:97481897-97481910
2	NR3C1	chr2:97481553-97482675	A549	lung:	n/a	n/a
3	POLR2A	chr2:97481096-97483863	GM12878	blood:	n/a	n/a
4	MAX	chr2:97481268-97482615	ECC-1	luminal epithelium:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
5	ZBTB7A	chr2:97481705-97481907	HepG2	liver:	n/a	n/a
6	SP1	chr2:97481624-97482367	A549	lung:	n/a	chr2:97481896-97481905 chr2:97481901-97481910 chr2:97481902-97481911 chr2:97481900-97481912 chr2:97481895-97481904 chr2:97481904-97481925 chr2:97481901-97481915 chr2:97481901-97481911 chr2:97481900-97481912 chr2:97481894-97481906 chr2:97481894-97481906
7	SIN3AK20	chr2:97481051-97482332	MCF-7	breast:	n/a	n/a
8	TCF12	chr2:97481604-97482660	ECC-1	luminal epithelium:	n/a	chr2:97482002-97482012
9	ZNF263	chr2:97481138-97486512	HEK293-T-REx	kidney:	n/a	chr2:97486292-97486301 chr2:97484433-97484454
10	MAX	chr2:97481365-97482191	SK-N-SH	brain:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
11	POLR2A	chr2:97481632-97481861	A549	lung:	n/a	n/a
12	SIN3AK20	chr2:97481426-97481885	HepG2	liver:	n/a	n/a
13	TAF1	chr2:97481420-97482661	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr2:97481088-97483359	Hela-S3	cervix:	n/a	n/a
15	PML	chr2:97481662-97482490	MCF-7	breast:	n/a	n/a
16	CREB1	chr2:97481499-97482739	A549	lung:	n/a	n/a
17	POLR2A	chr2:97481498-97482738	HUVEC	blood vessel:	n/a	n/a
18	RCOR1	chr2:97481636-97482383	GM12878	blood:	n/a	n/a
19	EGR1	chr2:97481692-97482221	ECC-1	luminal epithelium:	n/a	chr2:97481897-97481910 chr2:97481898-97481907 chr2:97481896-97481910 chr2:97481896-97481911 chr2:97481897-97481910 chr2:97481902-97481912 chr2:97481894-97481908 chr2:97481897-97481907 chr2:97481897-97481910 chr2:97481897-97481910
20	POLR2A	chr2:97481236-97482891	GM15510	blood:	n/a	n/a
21	YY1	chr2:97481692-97482414	ECC-1	luminal epithelium:	n/a	chr2:97481751-97481760 chr2:97481899-97481908 chr2:97481708-97481722 chr2:97481900-97481914
22	POLR2A	chr2:97481531-97482767	HEK293	kidney:	n/a	n/a
23	MAX	chr2:97481293-97483422	A549	lung:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
24	MXI1	chr2:97481116-97482966	GM12878	blood:	n/a	n/a
25	CTCF	chr2:97481705-97482787	IMR90	lung:	n/a	n/a
26	MTA3	chr2:97480937-97481766	GM12878	blood:	n/a	n/a
27	CREB1	chr2:97481057-97483477	HepG2	liver:	n/a	n/a
28	MYC	chr2:97481030-97483235	NB4	blood:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
29	YY1	chr2:97481641-97482390	HCT-116	colon:	n/a	chr2:97481751-97481760 chr2:97481899-97481908 chr2:97481708-97481722 chr2:97481900-97481914
30	MXI1	chr2:97481062-97483293	HepG2	liver:	n/a	n/a
31	NFYA	chr2:97481562-97482647	Hela-S3	cervix:	n/a	chr2:97481907-97481925 chr2:97481946-97481958 chr2:97481911-97481926 chr2:97481911-97481926
32	POLR2A	chr2:97481565-97482800	NB4	blood:	n/a	n/a
33	POLR2A	chr2:97481496-97482437	PBDE	blood:	n/a	n/a
34	MYC	chr2:97481145-97482722	K562	blood:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
35	POLR2A	chr2:97481615-97482284	SK-N-SH	brain:	n/a	n/a
36	MAX	chr2:97480968-97483512	A549	lung:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
37	GABPA	chr2:97481411-97482177	H1-hESC	embryonic stem cell:	n/a	chr2:97481902-97481911 chr2:97481747-97481756 chr2:97481671-97481680
38	GTF3C2	chr2:97481700-97482681	K562	blood:	n/a	n/a
39	POLR2A	chr2:97481528-97483244	MCF-7	breast:	n/a	n/a
40	E2F6	chr2:97481153-97482170	H1-hESC	embryonic stem cell:	n/a	chr2:97481751-97481760 chr2:97481958-97481967 chr2:97481364-97481376 chr2:97481896-97481905
41	POLR2A	chr2:97481622-97482771	A549	lung:	n/a	n/a
42	HEY1	chr2:97481454-97482866	HepG2	liver:	n/a	chr2:97481955-97481970 chr2:97481709-97481724
43	CTCF	chr2:97481676-97482801	K562	blood:	n/a	n/a
44	FOXA1	chr2:97481619-97481989	T-47D	breast:	n/a	n/a
45	HEY1	chr2:97481560-97482379	K562	blood:	n/a	chr2:97481955-97481970 chr2:97481709-97481724
46	POLR2A	chr2:97481616-97483172	A549	lung:	n/a	n/a
47	BHLHE40	chr2:97481163-97482572	GM12878	blood:	n/a	n/a
48	CEBPD	chr2:97481551-97482537	HepG2	liver:	n/a	n/a
49	ELF1	chr2:97481055-97482523	GM12878	blood:	n/a	chr2:97481895-97481907 chr2:97481703-97481715 chr2:97481902-97481914
50	MXI1	chr2:97481070-97483573	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:97302043..97304772-chr2:97480834..97485283,4	K562	blood:
2	chr2:97302952..97305022-chr2:97481063..97483448,2	MCF-7	breast:
3	chr2:97481636..97484312-chr2:97528160..97530681,3	MCF-7	breast:
4	chr2:97481114..97483138-chr2:97559703..97563563,4	MCF-7	breast:
5	chr2:97481648..97486150-chr2:97531417..97538119,10	MCF-7	breast:
6	chr2:97480973..97483903-chr2:97621623..97628750,6	MCF-7	breast:
7	chr2:97480158..97482561-chr2:97778545..97780856,2	MCF-7	breast:
8	chr1:113161829..113162386-chr2:97481549..97482238,2	Hela-S3	cervix:
9	chr2:97481295..97481867-chr5:137878471..137879396,2	Hela-S3	cervix:
10	chr2:97481562..97482123-chr7:10979299..10980019,2	Hela-S3	cervix:
11	chr2:97481193..97483827-chr2:97615548..97618256,2	MCF-7	breast:
12	chr2:97302401..97304754-chr2:97481583..97484330,2	MCF-7	breast:
13	chr2:97480273..97481938-chr2:97629439..97631749,2	MCF-7	breast:
14	chr2:97480034..97481965-chr2:97506952..97509258,2	MCF-7	breast:
15	chr2:97425678..97429518-chr2:97479689..97484495,7	MCF-7	breast:
16	chr2:97481330..97485256-chr2:97521136..97525640,5	K562	blood:
17	chr17:57913918..57915795-chr2:97481404..97483312,2	MCF-7	breast:
18	chr2:97480014..97482644-chr2:97518894..97524629,5	MCF-7	breast:
19	chr2:97481539..97482070-chr4:6695226..6696046,2	Hela-S3	cervix:
20	chr2:97480844..97484629-chr2:97532869..97536982,6	MCF-7	breast:
21	chr2:97481330..97483685-chr2:97521136..97525158,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD23-2	chr2:97480684-97481990	NONHSAT072586
2	lnc-ANKRD23-2	chr2:97480968-97481762	NONHSAT072587

Variant related genes	Relation type
CNNM3	TF binding region
ENSG00000273265	TF binding region
ENSG00000168758	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000252845	Chromatin interaction
ENSG00000213337	Chromatin interaction
ENSG00000007341	Chromatin interaction
ENSG00000163993	Chromatin interaction
ENSG00000135976	Chromatin interaction
ENSG00000163126	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000189043	Chromatin interaction
ENSG00000120705	Chromatin interaction
ENSG00000114982	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' 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	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	esv3419974	chr2:97480425-97484723	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	esv3522461	chr2:97480625-97484323	Flanking Active TSS Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	esv3522462	chr2:97481225-97484298	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	esv3522464	chr2:97481225-97484298	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr2:97480800-97482800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:97480800-97483000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr2:97480800-97483000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:97481000-97482000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:97481000-97482800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:97481000-97482800	Active TSS	Colonic Mucosa	Colon
7	chr2:97481000-97483000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr2:97481000-97483000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:97481000-97483000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:97481000-97483000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:97481000-97483000	Active TSS	Fetal Stomach	stomach
12	chr2:97481000-97483000	Active TSS	Ovary	ovary
13	chr2:97481000-97483000	Active TSS	Psoas Muscle	Psoas
14	chr2:97481000-97483200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr2:97481000-97483400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:97481000-97484000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:97481200-97481800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:97481200-97482800	Active TSS	Right Atrium	heart
19	chr2:97481200-97482800	Active TSS	Right Ventricle	heart
20	chr2:97481200-97483000	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr2:97481200-97483000	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr2:97481200-97483000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:97481200-97483000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:97481200-97483000	Active TSS	Esophagus	oesophagus
25	chr2:97481200-97483000	Active TSS	Gastric	stomach
26	chr2:97481200-97483000	Active TSS	Left Ventricle	heart
27	chr2:97481200-97483000	Active TSS	Lung	lung
28	chr2:97481200-97483000	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr2:97481200-97483000	Active TSS	Thymus	Thymus
30	chr2:97481200-97483000	Active TSS	NHDF-Ad	bronchial
31	chr2:97481200-97483200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:97481200-97483200	Active TSS	Aorta	Aorta
33	chr2:97481200-97483200	Active TSS	Colon Smooth Muscle	Colon
34	chr2:97481200-97483200	Active TSS	Small Intestine	intestine
35	chr2:97481200-97483200	Active TSS	A549	lung
36	chr2:97481200-97483400	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr2:97481200-97483400	Active TSS	Hela-S3	cervix
38	chr2:97481200-97483600	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr2:97481200-97484000	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr2:97481400-97482200	Active TSS	Fetal Kidney	kidney
41	chr2:97481400-97482600	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr2:97481400-97482800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:97481400-97482800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:97481400-97482800	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr2:97481400-97482800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:97481400-97482800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:97481400-97482800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:97481400-97482800	Active TSS	Pancreas	Pancrea
49	chr2:97481400-97482800	Active TSS	Stomach Smooth Muscle	stomach
50	chr2:97481400-97482800	Active TSS	Spleen	Spleen

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