Variant report

Variant	rs553072886
Chromosome Location	chr2:97426061-97426062
allele	A/C
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	MAX	chr2:97425868-97427547	A549	lung:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
2	MAX	chr2:97425916-97427312	HCT-116	colon:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
3	MAX	chr2:97425965-97427284	ECC-1	luminal epithelium:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
4	MAX	chr2:97426046-97426656	H1-hESC	embryonic stem cell:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
5	MAX	chr2:97425953-97426762	ECC-1	luminal epithelium:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
6	POLR2A	chr2:97425978-97426848	PFSK-1	brain:	n/a	n/a
7	RCOR1	chr2:97426037-97427339	K562	blood:	n/a	n/a
8	ZMIZ1	chr2:97426029-97426985	K562	blood:	n/a	n/a
9	POLR2A	chr2:97425902-97427318	MCF10A-Er-Src	breast:	n/a	n/a
10	ELF1	chr2:97425990-97427109	GM12878	blood:	n/a	chr2:97426480-97426489 chr2:97426437-97426446
11	E2F6	chr2:97425989-97426611	A549	lung:	n/a	chr2:97426518-97426532 chr2:97426548-97426557
12	MAX	chr2:97425987-97427187	HCT-116	colon:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
13	BCL3	chr2:97425841-97426532	A549	lung:	n/a	chr2:97426481-97426490 chr2:97426435-97426444 chr2:97426480-97426493
14	MYBL2	chr2:97425988-97427227	HepG2	liver:	n/a	n/a
15	RCOR1	chr2:97426036-97426478	K562	blood:	n/a	n/a
16	MXI1	chr2:97426021-97427241	GM12878	blood:	n/a	n/a
17	TCF12	chr2:97425930-97426552	A549	lung:	n/a	n/a
18	MAX	chr2:97425991-97428706	MCF-7	breast:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
19	HCFC1	chr2:97425872-97427233	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr2:97426019-97427368	SK-N-SH	brain:	n/a	n/a
21	MAX	chr2:97425970-97427510	HepG2	liver:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
22	MAZ	chr2:97425665-97427392	IMR90	lung:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
23	POLR2A	chr2:97426055-97427094	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr2:97426034-97427049	K562	blood:	n/a	n/a
25	POLR2A	chr2:97426016-97427082	GM12878	blood:	n/a	n/a
26	USF1	chr2:97426048-97426555	ECC-1	luminal epithelium:	n/a	n/a
27	RFX5	chr2:97425980-97426943	Hela-S3	cervix:	n/a	chr2:97426370-97426384
28	HDAC2	chr2:97426058-97427129	MCF-7	breast:	n/a	chr2:97426234-97426248
29	PML	chr2:97426036-97427414	GM12878	blood:	n/a	n/a
30	MAX	chr2:97426029-97427102	SK-N-SH	brain:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
31	MXI1	chr2:97425636-97427615	SK-N-SH	brain:	n/a	n/a
32	MAX	chr2:97425935-97427700	HepG2	liver:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
33	GTF2F1	chr2:97425875-97426773	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr2:97426021-97427334	A549	lung:	n/a	n/a
35	MAX	chr2:97426015-97426666	MCF-7	breast:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
36	CHD2	chr2:97426047-97427090	GM12878	blood:	n/a	n/a
37	MXI1	chr2:97425647-97427571	IMR90	lung:	n/a	n/a
38	E2F6	chr2:97425871-97426719	H1-hESC	embryonic stem cell:	n/a	chr2:97426518-97426532 chr2:97426548-97426557
39	MAX	chr2:97425976-97427275	H1-hESC	embryonic stem cell:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
40	POLR2A	chr2:97425648-97427085	GM12891	blood:	n/a	n/a
41	MAX	chr2:97425932-97427329	A549	lung:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
42	POLR2A	chr2:97425907-97427624	Raji	blood:	n/a	n/a
43	POLR2A	chr2:97425984-97426654	U87	brain:	n/a	n/a
44	POLR2A	chr2:97425971-97426547	K562	blood:	n/a	n/a
45	REST	chr2:97425918-97426809	H1-neurons	neurons:	n/a	n/a
46	BHLHE40	chr2:97426009-97427122	HepG2	liver:	n/a	n/a
47	POLR2A	chr2:97426022-97426739	HUVEC	blood vessel:	n/a	n/a
48	USF2	chr2:97425764-97426507	GM12878	blood:	n/a	n/a
49	MAX	chr2:97426020-97426705	SK-N-SH	brain:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
50	POLR2A	chr2:97426037-97426671	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:97300473..97305040-chr2:97425563..97430425,4	MCF-7	breast:
2	chr14:34930899..34931823-chr2:97425912..97426737,2	Hela-S3	cervix:
3	chr2:97407779..97410358-chr2:97422374..97426417,4	K562	blood:
4	chr2:96990031..96992678-chr2:97425792..97428161,2	K562	blood:
5	chr2:97399050..97401934-chr2:97425434..97428071,2	MCF-7	breast:
6	chr2:97268720..97275117-chr2:97424272..97429412,8	MCF-7	breast:
7	chr2:97358845..97361710-chr2:97424992..97426847,2	K562	blood:
8	chr2:97404813..97407675-chr2:97425727..97428415,3	K562	blood:
9	chr2:97425678..97429518-chr2:97479689..97484495,7	MCF-7	breast:
10	chr2:97425294..97427081-chr2:97533526..97535772,2	K562	blood:
11	chr2:97299733..97305587-chr2:97425305..97429139,7	K562	blood:
12	chr2:97299733..97305587-chr2:97422203..97428186,8	K562	blood:
13	chr2:97422064..97424734-chr2:97424939..97426592,2	MCF-7	breast:
14	chr2:97426031..97428759-chr2:97617125..97619977,2	MCF-7	breast:
15	chr2:97403401..97407119-chr2:97425023..97428100,7	MCF-7	breast:
16	chr2:97402906..97407899-chr2:97425229..97430147,10	MCF-7	breast:
17	chr19:59057645..59060088-chr2:97425289..97427469,2	MCF-7	breast:
18	chr2:97405153..97407675-chr2:97425109..97427390,3	K562	blood:
19	chr2:97423625..97426138-chr2:97484337..97486226,2	K562	blood:

Variant related genes	Relation type
CNNM4	TF binding region
ENSG00000114988	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000249715	Chromatin interaction
ENSG00000114982	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000165389	Chromatin interaction
ENSG00000198885	Chromatin interaction
ENSG00000130726	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	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
10	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	esv3438902	chr2:97425450-97427998	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
15	esv3445643	chr2:97425775-97427773	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97423800-97426200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:97424800-97426200	Enhancers	Esophagus	oesophagus
3	chr2:97425000-97426200	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr2:97425000-97426400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:97425200-97426200	Enhancers	Placenta	Placenta
6	chr2:97425400-97426200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:97425400-97426200	Enhancers	Pancreas	Pancrea
8	chr2:97425600-97426200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:97425600-97426400	Flanking Active TSS	Dnd41	blood
10	chr2:97425800-97426200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:97425800-97426200	Flanking Active TSS	Colon Smooth Muscle	Colon
12	chr2:97425800-97426200	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr2:97425800-97426200	Enhancers	Spleen	Spleen
14	chr2:97425800-97426200	Flanking Active TSS	A549	lung
15	chr2:97425800-97426200	Enhancers	HMEC	breast
16	chr2:97425800-97426400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:97425800-97426400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr2:97425800-97426400	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr2:97425800-97426400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr2:97425800-97426400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr2:97425800-97426400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr2:97425800-97426400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:97425800-97426400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr2:97425800-97426400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:97425800-97426400	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr2:97425800-97426400	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr2:97425800-97426400	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr2:97425800-97426800	Enhancers	Fetal Heart	heart
29	chr2:97425800-97426800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr2:97426000-97426200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:97426000-97426200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:97426000-97426200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:97426000-97426200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:97426000-97426200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr2:97426000-97426200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr2:97426000-97426200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr2:97426000-97426200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:97426000-97426200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:97426000-97426200	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr2:97426000-97426200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:97426000-97426200	Enhancers	Liver	Liver
42	chr2:97426000-97426200	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr2:97426000-97426200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr2:97426000-97426200	Enhancers	Fetal Brain Male	brain
45	chr2:97426000-97426200	Flanking Active TSS	Fetal Lung	lung
46	chr2:97426000-97426200	Enhancers	Gastric	stomach
47	chr2:97426000-97426200	Enhancers	Left Ventricle	heart
48	chr2:97426000-97426200	Enhancers	Right Ventricle	heart
49	chr2:97426000-97426200	Enhancers	Small Intestine	intestine
50	chr2:97426000-97426200	Enhancers	HUVEC	blood vessel

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