Variant report

Variant	rs539224819
Chromosome Location	chr2:97426422-97426423
allele	A/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	MAX	chr2:97425868-97427547	A549	lung:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
2	POLR2A	chr2:97426165-97427172	GM12892	blood:	n/a	n/a
3	IRF1	chr2:97426293-97426952	K562	blood:	n/a	chr2:97426547-97426561
4	CTCF	chr2:97426400-97426550	GM12874	blood:	n/a	n/a
5	MAX	chr2:97425916-97427312	HCT-116	colon:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
6	POLR2A	chr2:97426182-97426914	U87	brain:	n/a	n/a
7	EGR1	chr2:97426229-97426918	K562	blood:	n/a	chr2:97426548-97426558 chr2:97426435-97426448 chr2:97426544-97426558 chr2:97426575-97426589 chr2:97426543-97426556
8	RAD21	chr2:97426253-97426996	IMR90	lung:	n/a	n/a
9	SP1	chr2:97426186-97426741	A549	lung:	n/a	chr2:97426549-97426558 chr2:97426548-97426558 chr2:97426548-97426557 chr2:97426548-97426558 chr2:97426547-97426559 chr2:97426547-97426559 chr2:97426549-97426558
10	CTCF	chr2:97426300-97426450	HEEpiC	esophagus:	n/a	n/a
11	CTCF	chr2:97426380-97426530	GM06990	blood:	n/a	n/a
12	EP300	chr2:97426202-97426806	K562	blood:	n/a	chr2:97426235-97426249
13	CTCF	chr2:97426296-97426567	Spleen_OC	spleen:	n/a	n/a
14	JUND	chr2:97426210-97426916	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr2:97426400-97426550	GM12869	blood:	n/a	n/a
16	MAX	chr2:97425965-97427284	ECC-1	luminal epithelium:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
17	MYC	chr2:97426196-97426852	MCF10A-Er-Src	breast:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
18	MAX	chr2:97426046-97426656	H1-hESC	embryonic stem cell:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
19	PAX5	chr2:97426311-97426562	GM12878	blood:	n/a	n/a
20	CTCF	chr2:97426320-97426470	HL-60	blood:	n/a	n/a
21	FOXP2	chr2:97426261-97427235	PFSK-1	brain:	n/a	n/a
22	MAX	chr2:97425953-97426762	ECC-1	luminal epithelium:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
23	POLR2A	chr2:97426238-97426963	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr2:97426320-97426470	HepG2	liver:	n/a	n/a
25	USF1	chr2:97426215-97426477	SK-N-SH_RA	brain:	n/a	n/a
26	POLR2A	chr2:97425978-97426848	PFSK-1	brain:	n/a	n/a
27	RCOR1	chr2:97426112-97426992	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr2:97426360-97426510	HMEC	breast:	n/a	n/a
29	CTCF	chr2:97426400-97426550	Hela-S3	cervix:	n/a	n/a
30	MAX	chr2:97426140-97427123	NB4	blood:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
31	CTCF	chr2:97426360-97426510	GM12867	blood:	n/a	n/a
32	RCOR1	chr2:97426037-97427339	K562	blood:	n/a	n/a
33	CTCF	chr2:97426340-97426490	GM12873	blood:	n/a	n/a
34	CTCF	chr2:97426353-97426569	GM19240	blood:	n/a	n/a
35	CTCF	chr2:97426412-97426518	GM13977	blood:	n/a	n/a
36	POLR2A	chr2:97426132-97427020	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr2:97426400-97426550	AG04450	lung:	n/a	n/a
38	SMC3	chr2:97426365-97427091	K562	blood:	n/a	n/a
39	POLR2A	chr2:97426093-97427137	Hela-S3	cervix:	n/a	n/a
40	ZMIZ1	chr2:97426029-97426985	K562	blood:	n/a	n/a
41	POLR2A	chr2:97425902-97427318	MCF10A-Er-Src	breast:	n/a	n/a
42	CTCF	chr2:97426360-97426510	AG04449	skin:	n/a	n/a
43	EGR1	chr2:97426194-97426983	K562	blood:	n/a	chr2:97426548-97426558 chr2:97426435-97426448 chr2:97426544-97426558 chr2:97426575-97426589 chr2:97426543-97426556
44	POLR2A	chr2:97426211-97426862	HCT-116	colon:	n/a	n/a
45	RAD21	chr2:97426275-97426973	SK-N-SH_RA	brain:	n/a	n/a
46	WRNIP1	chr2:97426107-97426631	GM12878	blood:	n/a	n/a
47	TAF1	chr2:97426239-97426915	ECC-1	luminal epithelium:	n/a	n/a
48	ZNF143	chr2:97426224-97427382	GM12878	blood:	n/a	n/a
49	STAT5A	chr2:97426152-97426515	GM12878	blood:	n/a	chr2:97426232-97426243
50	HA-E2F1	chr2:97426105-97426571	MCF-7	breast:	n/a	chr2:97426518-97426532 chr2:97426548-97426557

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	chr2:96990031..96992678-chr2:97425792..97428161,2	K562	blood:
4	chr2:97399050..97401934-chr2:97425434..97428071,2	MCF-7	breast:
5	chr2:97268720..97275117-chr2:97424272..97429412,8	MCF-7	breast:
6	chr2:97358845..97361710-chr2:97424992..97426847,2	K562	blood:
7	chr2:97404813..97407675-chr2:97425727..97428415,3	K562	blood:
8	chr14:20923224..20923843-chr2:97426397..97427093,2	Hela-S3	cervix:
9	chr15:65596846..65597612-chr2:97426220..97426721,2	Hela-S3	cervix:
10	chr2:97425678..97429518-chr2:97479689..97484495,7	MCF-7	breast:
11	chr2:97425294..97427081-chr2:97533526..97535772,2	K562	blood:
12	chr2:97299733..97305587-chr2:97425305..97429139,7	K562	blood:
13	chr2:97426251..97427245-chr3:20227662..20228331,2	Hela-S3	cervix:
14	chr2:97299733..97305587-chr2:97422203..97428186,8	K562	blood:
15	chr2:97426212..97427746-chr2:97532479..97534253,2	MCF-7	breast:
16	chr2:97422064..97424734-chr2:97424939..97426592,2	MCF-7	breast:
17	chr2:97426031..97428759-chr2:97617125..97619977,2	MCF-7	breast:
18	chr2:97403401..97407119-chr2:97425023..97428100,7	MCF-7	breast:
19	chr2:97402906..97407899-chr2:97425229..97430147,10	MCF-7	breast:
20	chr11:808341..811136-chr2:97426419..97428883,2	K562	blood:
21	chr19:59057645..59060088-chr2:97425289..97427469,2	MCF-7	breast:
22	chr2:97405153..97407675-chr2:97425109..97427390,3	K562	blood:
23	chr2:97301517..97305285-chr2:97426115..97429843,6	MCF-7	breast:

Variant related genes	Relation type
CNNM4	TF binding region
ENSG00000130726	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000114988	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000198885	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000249715	Chromatin interaction
ENSG00000114982	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000129810	Chromatin interaction
ENSG00000165389	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000177595	Chromatin interaction
ENSG00000177600	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97425800-97426800	Enhancers	Fetal Heart	heart
2	chr2:97425800-97426800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr2:97426000-97426600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:97426000-97426800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:97426000-97427000	Active TSS	Brain Anterior Caudate	brain
6	chr2:97426000-97427000	Active TSS	Brain Germinal Matrix	brain
7	chr2:97426000-97427000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:97426000-97427200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr2:97426000-97427200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:97426000-97427200	Active TSS	Brain Angular Gyrus	brain
11	chr2:97426000-97427200	Active TSS	Brain Hippocampus Middle	brain
12	chr2:97426000-97427200	Active TSS	Brain Substantia Nigra	brain
13	chr2:97426000-97427200	Active TSS	Fetal Brain Female	brain
14	chr2:97426000-97427200	Active TSS	Ovary	ovary
15	chr2:97426000-97427200	Active TSS	Psoas Muscle	Psoas
16	chr2:97426000-97427400	Active TSS	Fetal Kidney	kidney
17	chr2:97426000-97427600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:97426200-97426800	Active TSS	Primary T cells from cord blood	blood
19	chr2:97426200-97427000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:97426200-97427000	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr2:97426200-97427000	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:97426200-97427000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:97426200-97427000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:97426200-97427000	Active TSS	Brain Cingulate Gyrus	brain
25	chr2:97426200-97427000	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr2:97426200-97427000	Active TSS	Fetal Lung	lung
27	chr2:97426200-97427000	Active TSS	Lung	lung
28	chr2:97426200-97427000	Active TSS	Spleen	Spleen
29	chr2:97426200-97427000	Active TSS	A549	lung
30	chr2:97426200-97427000	Active TSS	NHLF	lung
31	chr2:97426200-97427200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:97426200-97427200	Active TSS	Gastric	stomach
33	chr2:97426200-97427200	Active TSS	Left Ventricle	heart
34	chr2:97426200-97427200	Active TSS	Rectal Smooth Muscle	rectum
35	chr2:97426200-97427400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:97426200-97427400	Active TSS	Aorta	Aorta
37	chr2:97426200-97427400	Active TSS	Colon Smooth Muscle	Colon
38	chr2:97426200-97427400	Active TSS	Small Intestine	intestine
39	chr2:97426200-97428000	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr2:97426200-97430400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr2:97426400-97426600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr2:97426400-97426600	Enhancers	Liver	Liver
43	chr2:97426400-97426600	Enhancers	Fetal Brain Male	brain
44	chr2:97426400-97426600	Enhancers	Placenta	Placenta
45	chr2:97426400-97426600	Active TSS	Right Atrium	heart
46	chr2:97426400-97426600	Enhancers	HUVEC	blood vessel
47	chr2:97426400-97426800	Active TSS	H1 Cell Line	embryonic stem cell
48	chr2:97426400-97426800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:97426400-97426800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:97426400-97426800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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