Variant report

Variant	rs530872167
Chromosome Location	chr2:97481590-97481591
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	ZMIZ1	chr2:97481532-97481709	K562	blood:	n/a	n/a
2	NR3C1	chr2:97481553-97482675	A549	lung:	n/a	n/a
3	POLR2A	chr2:97481096-97483863	GM12878	blood:	n/a	n/a
4	GTF2F1	chr2:97481476-97481651	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr2:97481268-97482615	ECC-1	luminal epithelium:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
6	SIN3AK20	chr2:97481051-97482332	MCF-7	breast:	n/a	n/a
7	ZNF263	chr2:97481138-97486512	HEK293-T-REx	kidney:	n/a	chr2:97486292-97486301 chr2:97484433-97484454
8	MAX	chr2:97481365-97482191	SK-N-SH	brain:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
9	SIN3AK20	chr2:97481426-97481885	HepG2	liver:	n/a	n/a
10	TAF1	chr2:97481420-97482661	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAFK	chr2:97480692-97481707	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr2:97481088-97483359	Hela-S3	cervix:	n/a	n/a
13	CREB1	chr2:97481499-97482739	A549	lung:	n/a	n/a
14	POLR2A	chr2:97481498-97482738	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr2:97481236-97482891	GM15510	blood:	n/a	n/a
16	POLR2A	chr2:97481531-97482767	HEK293	kidney:	n/a	n/a
17	MAX	chr2:97481293-97483422	A549	lung:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
18	MXI1	chr2:97481116-97482966	GM12878	blood:	n/a	n/a
19	MTA3	chr2:97480937-97481766	GM12878	blood:	n/a	n/a
20	CREB1	chr2:97481057-97483477	HepG2	liver:	n/a	n/a
21	MYC	chr2:97481030-97483235	NB4	blood:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
22	MXI1	chr2:97481062-97483293	HepG2	liver:	n/a	n/a
23	NFYA	chr2:97481562-97482647	Hela-S3	cervix:	n/a	chr2:97481907-97481925 chr2:97481946-97481958 chr2:97481911-97481926 chr2:97481911-97481926
24	POLR2A	chr2:97481565-97482800	NB4	blood:	n/a	n/a
25	POLR2A	chr2:97481496-97482437	PBDE	blood:	n/a	n/a
26	MYC	chr2:97481145-97482722	K562	blood:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
27	CTCF	chr2:97481500-97481650	SK-N-SH_RA	brain:	n/a	n/a
28	MAX	chr2:97480968-97483512	A549	lung:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
29	GABPA	chr2:97481411-97482177	H1-hESC	embryonic stem cell:	n/a	chr2:97481902-97481911 chr2:97481747-97481756 chr2:97481671-97481680
30	POLR2A	chr2:97481528-97483244	MCF-7	breast:	n/a	n/a
31	E2F6	chr2:97481153-97482170	H1-hESC	embryonic stem cell:	n/a	chr2:97481751-97481760 chr2:97481958-97481967 chr2:97481364-97481376 chr2:97481896-97481905
32	HEY1	chr2:97481454-97482866	HepG2	liver:	n/a	chr2:97481955-97481970 chr2:97481709-97481724
33	CTCF	chr2:97481560-97481710	AG04449	skin:	n/a	n/a
34	HEY1	chr2:97481560-97482379	K562	blood:	n/a	chr2:97481955-97481970 chr2:97481709-97481724
35	BHLHE40	chr2:97481163-97482572	GM12878	blood:	n/a	n/a
36	CEBPD	chr2:97481551-97482537	HepG2	liver:	n/a	n/a
37	ELF1	chr2:97481055-97482523	GM12878	blood:	n/a	chr2:97481895-97481907 chr2:97481703-97481715 chr2:97481902-97481914
38	MXI1	chr2:97481070-97483573	IMR90	lung:	n/a	n/a
39	FOXA1	chr2:97481536-97483014	HepG2	liver:	n/a	n/a
40	MYC	chr2:97481416-97482132	H1-hESC	embryonic stem cell:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
41	POLR2A	chr2:97480971-97482986	MCF10A-Er-Src	breast:	n/a	n/a
42	SIN3AK20	chr2:97481381-97482110	H1-hESC	embryonic stem cell:	n/a	n/a
43	HDAC2	chr2:97481143-97482361	MCF-7	breast:	n/a	n/a
44	HA-E2F1	chr2:97481304-97483165	Hela-S3	cervix:	n/a	chr2:97481751-97481760 chr2:97481958-97481967 chr2:97481364-97481376 chr2:97481896-97481905
45	ZBTB7A	chr2:97481393-97482396	K562	blood:	n/a	n/a
46	POLR2A	chr2:97481234-97482567	PANC-1	pancreas:	n/a	n/a
47	YY1	chr2:97481408-97482622	ECC-1	luminal epithelium:	n/a	chr2:97481751-97481760 chr2:97481899-97481908 chr2:97481708-97481722 chr2:97481900-97481914
48	SIN3A	chr2:97481117-97483408	H1-hESC	embryonic stem cell:	n/a	n/a
49	SIN3AK20	chr2:97481402-97482930	PANC-1	pancreas:	n/a	n/a
50	MAZ	chr2:97481187-97482710	K562	blood:	n/a	chr2:97481901-97481911

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	chr2:97481114..97483138-chr2:97559703..97563563,4	MCF-7	breast:
4	chr2:97480973..97483903-chr2:97621623..97628750,6	MCF-7	breast:
5	chr2:97480158..97482561-chr2:97778545..97780856,2	MCF-7	breast:
6	chr1:113161829..113162386-chr2:97481549..97482238,2	Hela-S3	cervix:
7	chr2:97481295..97481867-chr5:137878471..137879396,2	Hela-S3	cervix:
8	chr2:97481562..97482123-chr7:10979299..10980019,2	Hela-S3	cervix:
9	chr2:97481193..97483827-chr2:97615548..97618256,2	MCF-7	breast:
10	chr2:97302401..97304754-chr2:97481583..97484330,2	MCF-7	breast:
11	chr2:97480273..97481938-chr2:97629439..97631749,2	MCF-7	breast:
12	chr2:97480034..97481965-chr2:97506952..97509258,2	MCF-7	breast:
13	chr2:97425678..97429518-chr2:97479689..97484495,7	MCF-7	breast:
14	chr2:97481330..97485256-chr2:97521136..97525640,5	K562	blood:
15	chr17:57913918..57915795-chr2:97481404..97483312,2	MCF-7	breast:
16	chr2:97480014..97482644-chr2:97518894..97524629,5	MCF-7	breast:
17	chr2:97481539..97482070-chr4:6695226..6696046,2	Hela-S3	cervix:
18	chr2:97480844..97484629-chr2:97532869..97536982,6	MCF-7	breast:
19	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
ENSG00000273265	TF binding region
CNNM3	TF binding region
ENSG00000168758	Chromatin interaction
ENSG00000163126	Chromatin interaction
ENSG00000213337	Chromatin interaction
ENSG00000114982	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000007341	Chromatin interaction
ENSG00000163993	Chromatin interaction
ENSG00000120705	Chromatin interaction
ENSG00000189043	Chromatin interaction
ENSG00000252845	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000135976	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	chr2:97480800-97481600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr2:97480800-97481600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:97480800-97481600	Flanking Active TSS	Liver	Liver
4	chr2:97480800-97481600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr2:97480800-97481600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr2:97480800-97481600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr2:97480800-97482800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:97480800-97483000	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:97480800-97483000	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr2:97481000-97481600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr2:97481000-97481600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr2:97481000-97481600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr2:97481000-97481600	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr2:97481000-97481600	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr2:97481000-97481600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr2:97481000-97481600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr2:97481000-97481600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:97481000-97481600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:97481000-97481600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:97481000-97481600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr2:97481000-97481600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr2:97481000-97481600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:97481000-97481600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:97481000-97481600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr2:97481000-97481600	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr2:97481000-97481600	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr2:97481000-97481600	Flanking Active TSS	Placenta	Placenta
28	chr2:97481000-97481600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr2:97481000-97481600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr2:97481000-97481600	Flanking Active TSS	Stomach Mucosa	stomach
31	chr2:97481000-97481600	Flanking Active TSS	GM12878-XiMat	blood
32	chr2:97481000-97481600	Flanking Active TSS	HUVEC	blood vessel
33	chr2:97481000-97481600	Flanking Active TSS	NH-A	brain
34	chr2:97481000-97481600	Flanking Active TSS	NHEK	skin
35	chr2:97481000-97482000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:97481000-97482800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:97481000-97482800	Active TSS	Colonic Mucosa	Colon
38	chr2:97481000-97483000	Active TSS	H1 Cell Line	embryonic stem cell
39	chr2:97481000-97483000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:97481000-97483000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:97481000-97483000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:97481000-97483000	Active TSS	Fetal Stomach	stomach
43	chr2:97481000-97483000	Active TSS	Ovary	ovary
44	chr2:97481000-97483000	Active TSS	Psoas Muscle	Psoas
45	chr2:97481000-97483200	Active TSS	H9 Cell Line	embryonic stem cell
46	chr2:97481000-97483400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:97481000-97484000	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr2:97481200-97481600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:97481200-97481600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:97481200-97481600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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