Variant report

Variant	rs6761890
Chromosome Location	chr2:64372042-64372043
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	POLR2A	chr2:64370564-64372157	H1-hESC	embryonic stem cell:	n/a	n/a
2	EP300	chr2:64370940-64372816	ECC-1	luminal epithelium:	n/a	chr2:64371064-64371080 chr2:64371104-64371120 chr2:64371073-64371089 chr2:64371090-64371106 chr2:64371061-64371077
3	ETS1	chr2:64371346-64372090	A549	lung:	n/a	chr2:64371664-64371677 chr2:64371587-64371598 chr2:64371752-64371761 chr2:64371588-64371599 chr2:64371663-64371676
4	POLR2A	chr2:64371257-64372076	SK-N-MC	brain:	n/a	n/a
5	ETS1	chr2:64371415-64372071	K562	blood:	n/a	chr2:64371664-64371677 chr2:64371587-64371598 chr2:64371752-64371761 chr2:64371588-64371599 chr2:64371663-64371676
6	IRF1	chr2:64371350-64372045	K562	blood:	n/a	chr2:64372028-64372037 chr2:64371589-64371603
7	CBX3	chr2:64371208-64372086	K562	blood:	n/a	n/a
8	MXI1	chr2:64369673-64372181	GM12878	blood:	n/a	chr2:64371780-64371795
9	MTA3	chr2:64371141-64372141	GM12878	blood:	n/a	n/a
10	MAX	chr2:64371189-64372060	MCF-7	breast:	n/a	chr2:64371768-64371778 chr2:64371780-64371789
11	TBP	chr2:64371297-64372094	HepG2	liver:	n/a	n/a
12	MXI1	chr2:64369317-64372440	SK-N-SH	brain:	n/a	chr2:64371780-64371795
13	POLR2A	chr2:64370743-64372090	GM12892	blood:	n/a	n/a
14	ELF1	chr2:64371238-64372085	HepG2	liver:	n/a	n/a
15	NFIC	chr2:64371307-64372102	HepG2	liver:	n/a	n/a
16	RUNX3	chr2:64371113-64372067	GM12878	blood:	n/a	n/a
17	ELF1	chr2:64371407-64372064	MCF-7	breast:	n/a	n/a
18	RCOR1	chr2:64371344-64372050	K562	blood:	n/a	n/a
19	IRF1	chr2:64371336-64372071	K562	blood:	n/a	chr2:64372028-64372037 chr2:64371589-64371603
20	HCFC1	chr2:64371108-64372214	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr2:64371276-64372051	HCT-116	colon:	n/a	n/a
22	MAX	chr2:64371146-64372072	A549	lung:	n/a	chr2:64371768-64371778 chr2:64371780-64371789
23	E2F4	chr2:64371249-64372055	MCF10A-Er-Src	breast:	n/a	chr2:64371590-64371599
24	POLR2A	chr2:64371215-64372282	MCF10A-Er-Src	breast:	n/a	n/a
25	PML	chr2:64371016-64372127	GM12878	blood:	n/a	n/a
26	HEY1	chr2:64371156-64372117	HepG2	liver:	n/a	n/a
27	EP300	chr2:64371275-64372058	K562	blood:	n/a	n/a
28	POLR2A	chr2:64371170-64372077	HepG2	liver:	n/a	n/a
29	TBP	chr2:64371400-64372081	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr2:64371133-64372193	SK-N-MC	brain:	n/a	n/a
31	MAZ	chr2:64371294-64372042	GM12878	blood:	n/a	chr2:64371768-64371778 chr2:64371780-64371789
32	POLR2A	chr2:64370721-64372065	H1-neurons	neurons:	n/a	n/a
33	SIX5	chr2:64371318-64372043	A549	lung:	n/a	chr2:64371663-64371677 chr2:64371664-64371673 chr2:64371666-64371675
34	ZNF143	chr2:64371319-64372063	H1-hESC	embryonic stem cell:	n/a	chr2:64371666-64371675 chr2:64371664-64371673 chr2:64371657-64371675
35	JUND	chr2:64371175-64372052	K562	blood:	n/a	chr2:64371589-64371598
36	POLR2A	chr2:64371164-64372067	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr2:64371221-64372077	HCT-116	colon:	n/a	n/a
38	BHLHE40	chr2:64371301-64372056	K562	blood:	n/a	n/a
39	MYBL2	chr2:64371189-64372184	HepG2	liver:	n/a	n/a
40	POLR2A	chr2:64371233-64372074	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:64370415-64372149	HUVEC	blood vessel:	n/a	n/a
42	CUX1	chr2:64371738-64372186	K562	blood:	n/a	n/a
43	POLR2A	chr2:64371193-64372058	HepG2	liver:	n/a	n/a
44	MAZ	chr2:64371000-64372108	HepG2	liver:	n/a	chr2:64371768-64371778 chr2:64371780-64371789
45	NRF1	chr2:64370799-64372181	SK-N-SH	brain:	n/a	chr2:64371083-64371092 chr2:64371735-64371749 chr2:64371590-64371599 chr2:64371090-64371099
46	MAZ	chr2:64369968-64372240	IMR90	lung:	n/a	chr2:64371768-64371778 chr2:64371780-64371789
47	RAD21	chr2:64371209-64372050	ECC-1	luminal epithelium:	n/a	n/a
48	REST	chr2:64370192-64372230	H1-neurons	neurons:	n/a	chr2:64371061-64371071 chr2:64371103-64371113

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64371841..64374701-chr2:64382172..64383968,2	MCF-7	breast:

Variant related genes	Relation type
PELI1	TF binding region

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10196884	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11125990	0.85[EUR][1000 genomes]
rs12612414	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12617396	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34212947	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3919686	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6712714	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6717575	0.82[EUR][1000 genomes]
rs6717990	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7601151	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834243	chr2:64316514-64476935	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv9957	chr2:64341714-64518231	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	esv13275	chr2:64342247-64515169	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv1012905	chr2:64342469-64508983	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv1013735	chr2:64342469-64512286	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv3693324	chr2:64342469-64513207	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv999608	chr2:64342469-64517459	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv1000390	chr2:64343861-64512286	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	esv2756924	chr2:64349202-64521290	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
18	nsv1004574	chr2:64360195-64478171	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	nsv1004899	chr2:64369300-64513607	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
20	nsv535769	chr2:64369300-64513607	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
21	nsv1015084	chr2:64369734-64512286	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
22	esv3373290	chr2:64370073-64372621	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64367200-64372400	Active TSS	GM12878-XiMat	blood
2	chr2:64368800-64372200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:64369000-64372200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:64369000-64372200	Active TSS	Duodenum Mucosa	Duodenum
5	chr2:64369200-64372200	Active TSS	Colon Smooth Muscle	Colon
6	chr2:64369200-64372200	Active TSS	Osteobl	bone
7	chr2:64369400-64372200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:64369400-64372200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:64370400-64372200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:64370400-64372200	Active TSS	Muscle Satellite Cultured Cells	--
11	chr2:64370400-64372600	Active TSS	Lung	lung
12	chr2:64370600-64372200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:64371400-64372200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:64371600-64372200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:64371600-64372200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:64371600-64372200	Flanking Active TSS	Dnd41	blood
17	chr2:64371600-64372400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:64371600-64373200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:64371600-64373200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:64371600-64373200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:64371600-64373400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:64371600-64373800	Weak transcription	Placenta	Placenta
23	chr2:64371800-64372200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:64371800-64372200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:64371800-64372200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:64371800-64372200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr2:64371800-64372200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:64371800-64372200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr2:64371800-64372200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr2:64371800-64372200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr2:64371800-64372200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr2:64371800-64372200	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr2:64371800-64372200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr2:64371800-64372200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:64371800-64372200	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr2:64371800-64372200	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr2:64371800-64372200	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr2:64371800-64372200	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr2:64371800-64372200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr2:64371800-64372200	Active TSS	Fetal Brain Male	brain
41	chr2:64371800-64372200	Flanking Active TSS	Fetal Kidney	kidney
42	chr2:64371800-64372200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr2:64371800-64372200	Flanking Active TSS	Thymus	Thymus
44	chr2:64371800-64372200	Flanking Active TSS	Hela-S3	cervix
45	chr2:64371800-64372200	Flanking Active TSS	HepG2	liver
46	chr2:64371800-64372200	Flanking Active TSS	HUVEC	blood vessel
47	chr2:64371800-64372200	Flanking Active TSS	K562	blood
48	chr2:64371800-64372200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr2:64371800-64372200	Flanking Active TSS	NH-A	brain
50	chr2:64371800-64372200	Flanking Active TSS	NHEK	skin

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