Variant report

Variant	rs34608578
Chromosome Location	chr2:127864920-127864921
allele	-/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	MXI1	chr2:127864152-127865100	H1-hESC	embryonic stem cell:	n/a	chr2:127864371-127864380
2	MAX	chr2:127864839-127865138	H1-hESC	embryonic stem cell:	n/a	chr2:127864851-127864861
3	EP300	chr2:127864553-127865074	SK-N-SH_RA	brain:	n/a	chr2:127864913-127864929 chr2:127864587-127864603 chr2:127864874-127864890
4	RAD21	chr2:127864550-127865121	SK-N-SH_RA	brain:	n/a	n/a
5	MAX	chr2:127863877-127865207	H1-hESC	embryonic stem cell:	n/a	chr2:127864851-127864861 chr2:127864540-127864550
6	TEAD4	chr2:127864335-127865331	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr2:127863018-127865453	H1-neurons	neurons:	n/a	n/a
8	MAX	chr2:127864200-127865143	HepG2	liver:	n/a	chr2:127864851-127864861 chr2:127864540-127864550
9	UBTF	chr2:127864742-127865004	K562	blood:	n/a	n/a
10	POLR2A	chr2:127863132-127865143	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr2:127864400-127865323	HCT-116	colon:	n/a	n/a
12	GTF2F1	chr2:127864898-127865096	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr2:127864464-127865119	A549	lung:	n/a	n/a
14	POLR2A	chr2:127864511-127865348	U87	brain:	n/a	n/a
15	TCF12	chr2:127864359-127865608	A549	lung:	n/a	n/a
16	MAX	chr2:127864408-127865163	MCF-7	breast:	n/a	chr2:127864851-127864861 chr2:127864540-127864550
17	POLR2A	chr2:127864534-127865104	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr2:127864496-127865063	A549	lung:	n/a	n/a
19	CEBPB	chr2:127864822-127865171	IMR90	lung:	n/a	n/a
20	MAX	chr2:127863173-127865099	ECC-1	luminal epithelium:	n/a	chr2:127864851-127864861 chr2:127863256-127863265 chr2:127863255-127863266 chr2:127863257-127863266 chr2:127863255-127863266 chr2:127863254-127863267 chr2:127864540-127864550 chr2:127863255-127863265 chr2:127863254-127863267 chr2:127863256-127863265
21	IRF1	chr2:127864905-127865107	K562	blood:	n/a	chr2:127865031-127865042 chr2:127864920-127864934
22	ZKSCAN1	chr2:127864532-127865055	Hela-S3	cervix:	n/a	n/a
23	TAF1	chr2:127864306-127865263	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr2:127864445-127865110	MCF10A-Er-Src	breast:	n/a	n/a
25	RAD21	chr2:127863130-127865407	IMR90	lung:	n/a	chr2:127863680-127863694 chr2:127864155-127864168 chr2:127863359-127863373
26	MYC	chr2:127864427-127865010	MCF10A-Er-Src	breast:	n/a	chr2:127864851-127864861 chr2:127864540-127864550
27	POLR2A	chr2:127864371-127865149	ECC-1	luminal epithelium:	n/a	n/a
28	FOXP2	chr2:127864520-127864977	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr2:127864417-127865103	HCT-116	colon:	n/a	n/a
30	EP300	chr2:127864301-127865063	ECC-1	luminal epithelium:	n/a	chr2:127864913-127864929 chr2:127864587-127864603 chr2:127864874-127864890
31	MYC	chr2:127864442-127865029	NB4	blood:	n/a	chr2:127864851-127864861 chr2:127864540-127864550
32	TAF7	chr2:127864703-127865142	H1-hESC	embryonic stem cell:	n/a	n/a
33	SIN3A	chr2:127863124-127865597	H1-hESC	embryonic stem cell:	n/a	chr2:127863827-127863838
34	ZNF143	chr2:127864669-127865060	GM12878	blood:	n/a	chr2:127864822-127864832
35	CHD1	chr2:127862467-127865680	IMR90	lung:	n/a	n/a
36	CTCF	chr2:127864793-127865084	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr2:127864334-127865331	SK-N-SH	brain:	n/a	chr2:127864851-127864861 chr2:127864540-127864550
38	JUND	chr2:127864810-127865017	H1-hESC	embryonic stem cell:	n/a	n/a
39	HA-E2F1	chr2:127864469-127865597	MCF-7	breast:	n/a	chr2:127865050-127865059 chr2:127865074-127865084
40	TAF1	chr2:127864560-127865195	SK-N-SH	brain:	n/a	n/a
41	SP1	chr2:127864581-127865184	A549	lung:	n/a	chr2:127864738-127864750 chr2:127864740-127864749 chr2:127864584-127864598 chr2:127864921-127864930 chr2:127865161-127865175 chr2:127864847-127864861 chr2:127864850-127864862 chr2:127864850-127864862 chr2:127864738-127864750 chr2:127864735-127864749 chr2:127865160-127865172 chr2:127864920-127864932 chr2:127864922-127864931 chr2:127864739-127864748 chr2:127864730-127864744 chr2:127864922-127864931
42	RAD21	chr2:127864542-127865011	SK-N-SH_RA	brain:	n/a	n/a
43	CTBP2	chr2:127863174-127865449	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr2:127864242-127865049	SK-N-SH	brain:	n/a	chr2:127864851-127864861 chr2:127864540-127864550
45	MXI1	chr2:127862993-127865623	IMR90	lung:	n/a	chr2:127864072-127864081 chr2:127864371-127864380
46	SIN3AK20	chr2:127864059-127865193	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr2:127864789-127865057	A549	lung:	n/a	n/a
48	REST	chr2:127862921-127865704	H1-neurons	neurons:	n/a	chr2:127864147-127864160 chr2:127863739-127863749 chr2:127863348-127863361 chr2:127864147-127864160 chr2:127864198-127864207
49	POLR2A	chr2:127862777-127866023	IMR90	lung:	n/a	n/a
50	TCF7L2	chr2:127864587-127865423	PANC-1	pancreas:	n/a	chr2:127865023-127865037

Variant related genes	Relation type
BIN1	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12989701	0.81[EUR][1000 genomes]
rs12994284	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12994718	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13004848	0.81[EUR][1000 genomes]
rs13009551	0.81[EUR][1000 genomes]
rs13029812	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28434131	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34745987	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34854727	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35832505	0.85[EUR][1000 genomes]
rs35860453	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36085158	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4663096	0.82[EUR][1000 genomes]
rs4663097	0.82[EUR][1000 genomes]
rs6720234	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71414738	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557280	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583814	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs873270	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv459241	chr2:127800981-127868435	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv583033	chr2:127800981-127868435	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv875011	chr2:127800981-127868435	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv875012	chr2:127800981-127895573	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv2757832	chr2:127830943-128006514	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv2759090	chr2:127830943-128006514	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv1005149	chr2:127841930-127880106	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr2:127862000-127865600	Active TSS	Psoas Muscle	Psoas
2	chr2:127862600-127865400	Active TSS	HSMMtube	muscle
3	chr2:127862600-127865600	Active TSS	Rectal Smooth Muscle	rectum
4	chr2:127862800-127865400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:127862800-127865400	Active TSS	Brain Angular Gyrus	brain
6	chr2:127862800-127865400	Active TSS	Brain Substantia Nigra	brain
7	chr2:127862800-127865400	Active TSS	Fetal Kidney	kidney
8	chr2:127862800-127865600	Active TSS	Brain Cingulate Gyrus	brain
9	chr2:127862800-127865600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:127862800-127865800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr2:127863000-127865200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:127863000-127865200	Active TSS	HSMM	muscle
13	chr2:127863000-127865400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:127863000-127865400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr2:127863000-127865400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:127863000-127865400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:127863000-127865400	Active TSS	Muscle Satellite Cultured Cells	--
18	chr2:127863000-127865400	Active TSS	Brain Hippocampus Middle	brain
19	chr2:127863000-127865400	Active TSS	Fetal Intestine Small	intestine
20	chr2:127863000-127865400	Active TSS	Hela-S3	cervix
21	chr2:127863000-127865400	Active TSS	NHDF-Ad	bronchial
22	chr2:127863000-127865600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:127863000-127865600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:127863000-127865600	Active TSS	Brain Anterior Caudate	brain
25	chr2:127863000-127865800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr2:127863000-127865800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:127863000-127866200	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr2:127863200-127865200	Active TSS	H1 Cell Line	embryonic stem cell
29	chr2:127863200-127865200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:127863200-127865200	Active TSS	Fetal Stomach	stomach
31	chr2:127863200-127865200	Active TSS	Osteobl	bone
32	chr2:127863200-127865400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:127863200-127865400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:127863200-127865400	Active TSS	Aorta	Aorta
35	chr2:127863200-127865400	Active TSS	Colon Smooth Muscle	Colon
36	chr2:127863200-127865400	Active TSS	Fetal Lung	lung
37	chr2:127863200-127865400	Active TSS	Left Ventricle	heart
38	chr2:127863200-127865400	Active TSS	Ovary	ovary
39	chr2:127863200-127865400	Active TSS	Right Atrium	heart
40	chr2:127863200-127865600	Active TSS	Gastric	stomach
41	chr2:127863200-127865800	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr2:127863400-127865200	Active TSS	Primary T cells from cord blood	blood
43	chr2:127863400-127865200	Active TSS	Right Ventricle	heart
44	chr2:127863400-127865400	Active TSS	Liver	Liver
45	chr2:127863400-127865400	Active TSS	Lung	lung
46	chr2:127863400-127865400	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr2:127863400-127865400	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr2:127863400-127865400	Active TSS	Stomach Mucosa	stomach
49	chr2:127863400-127865400	Active TSS	NH-A	brain
50	chr2:127863400-127865600	Active TSS	NHLF	lung

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