Variant report

Variant	rs6746080
Chromosome Location	chr2:64371615-64371616
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	CREB1	chr2:64371114-64371894	A549	lung:	n/a	n/a
2	POLR2A	chr2:64370564-64372157	H1-hESC	embryonic stem cell:	n/a	n/a
3	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
4	SIX5	chr2:64371522-64371759	K562	blood:	n/a	chr2:64371663-64371677 chr2:64371664-64371673 chr2:64371666-64371675
5	EGR1	chr2:64371615-64371929	K562	blood:	n/a	chr2:64371652-64371676 chr2:64371765-64371775 chr2:64371763-64371778 chr2:64371764-64371777 chr2:64371764-64371777
6	POLR2A	chr2:64370538-64371969	Hela-S3	cervix:	n/a	n/a
7	GABPA	chr2:64371231-64372034	MCF-7	breast:	n/a	chr2:64371735-64371749 chr2:64371590-64371599
8	ETS1	chr2:64371346-64372090	A549	lung:	n/a	chr2:64371664-64371677 chr2:64371587-64371598 chr2:64371752-64371761 chr2:64371588-64371599 chr2:64371663-64371676
9	POLR2A	chr2:64370819-64371985	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr2:64371423-64371893	MCF10A-Er-Src	breast:	n/a	chr2:64371768-64371778 chr2:64371780-64371789
11	PML	chr2:64371112-64371714	K562	blood:	n/a	n/a
12	EBF1	chr2:64371400-64371947	GM12878	blood:	n/a	n/a
13	FOXP2	chr2:64371474-64372008	SK-N-MC	brain:	n/a	n/a
14	CHD2	chr2:64371082-64371917	HepG2	liver:	n/a	chr2:64371091-64371101
15	RUNX3	chr2:64371121-64371966	GM12878	blood:	n/a	n/a
16	CTCF	chr2:64371375-64371632	GM12891	blood:	n/a	n/a
17	POU2F2	chr2:64371257-64371940	GM12891	blood:	n/a	n/a
18	BCLAF1	chr2:64371068-64371626	GM12878	blood:	n/a	chr2:64371068-64371081 chr2:64371586-64371599
19	NRF1	chr2:64371561-64371963	Hela-S3	cervix:	n/a	chr2:64371735-64371749 chr2:64371590-64371599
20	CTCF	chr2:64371540-64371690	HepG2	liver:	n/a	n/a
21	TAF1	chr2:64371172-64371739	K562	blood:	n/a	n/a
22	ZBTB7A	chr2:64371261-64371806	K562	blood:	n/a	n/a
23	MAX	chr2:64370415-64371964	Hela-S3	cervix:	n/a	chr2:64371768-64371778 chr2:64371780-64371789
24	RAD21	chr2:64371347-64372028	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:64370889-64371997	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr2:64371257-64372076	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr2:64370360-64372030	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr2:64371091-64371890	MCF-7	breast:	n/a	n/a
29	ETS1	chr2:64371415-64372071	K562	blood:	n/a	chr2:64371664-64371677 chr2:64371587-64371598 chr2:64371752-64371761 chr2:64371588-64371599 chr2:64371663-64371676
30	IRF1	chr2:64371350-64372045	K562	blood:	n/a	chr2:64372028-64372037 chr2:64371589-64371603
31	ZBTB7A	chr2:64370809-64371699	K562	blood:	n/a	chr2:64370854-64370861
32	CBX3	chr2:64371208-64372086	K562	blood:	n/a	n/a
33	POLR2A	chr2:64370956-64371901	MCF-7	breast:	n/a	n/a
34	NRF1	chr2:64371555-64371937	HepG2	liver:	n/a	chr2:64371735-64371749 chr2:64371590-64371599
35	YY1	chr2:64370816-64371849	HepG2	liver:	n/a	chr2:64371587-64371601 chr2:64371590-64371599 chr2:64371070-64371081 chr2:64370917-64370931
36	MAX	chr2:64371190-64371887	A549	lung:	n/a	chr2:64371768-64371778 chr2:64371780-64371789
37	POLR2A	chr2:64371279-64371865	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr2:64371203-64371884	GM12878	blood:	n/a	n/a
39	POLR2A	chr2:64371283-64371654	HepG2	liver:	n/a	n/a
40	ELK1	chr2:64371437-64371926	GM12878	blood:	n/a	n/a
41	RAD21	chr2:64371113-64371994	SK-N-SH_RA	brain:	n/a	n/a
42	POLR2A	chr2:64370878-64371748	HUVEC	blood vessel:	n/a	n/a
43	GABPA	chr2:64371486-64371917	A549	lung:	n/a	chr2:64371735-64371749 chr2:64371590-64371599
44	CTCF	chr2:64371323-64371631	HepG2	liver:	n/a	n/a
45	POLR2A	chr2:64371259-64371617	HepG2	liver:	n/a	n/a
46	REST	chr2:64371287-64371648	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr2:64370069-64371891	GM19193	blood:	n/a	n/a
48	CHD2	chr2:64370811-64371909	Hela-S3	cervix:	n/a	chr2:64371014-64371021 chr2:64371091-64371101
49	POLR2A	chr2:64370762-64371926	IMR90	lung:	n/a	n/a
50	SP1	chr2:64371497-64372002	H1-hESC	embryonic stem cell:	n/a	chr2:64371590-64371600 chr2:64371767-64371779 chr2:64371767-64371778 chr2:64371590-64371599 chr2:64371585-64371598 chr2:64371591-64371600 chr2:64371586-64371600 chr2:64371572-64371581 chr2:64371590-64371600 chr2:64371589-64371601 chr2:64371571-64371583 chr2:64371571-64371583 chr2:64371589-64371601 chr2:64371591-64371600

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64371127..64371648-chr3:169482551..169483132,2	Hela-S3	cervix:
2	chr19:12902085..12902808-chr2:64371127..64371837,2	NB4	blood:

Variant related genes	Relation type
PELI1	TF binding region
ENSG00000270141	Chromatin interaction
ENSG00000171223	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1554878	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs329499	0.82[EUR][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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64366400-64371800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr2:64367200-64372400	Active TSS	GM12878-XiMat	blood
3	chr2:64368200-64371800	Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr2:64368200-64372000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr2:64368600-64371800	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr2:64368600-64372000	Active TSS	Brain Angular Gyrus	brain
7	chr2:64368800-64371800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:64368800-64371800	Active TSS	Thymus	Thymus
9	chr2:64368800-64372000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:64368800-64372000	Active TSS	Right Ventricle	heart
11	chr2:64368800-64372200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:64369000-64371800	Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr2:64369000-64371800	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr2:64369000-64371800	Active TSS	NHDF-Ad	bronchial
15	chr2:64369000-64372000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:64369000-64372000	Active TSS	Aorta	Aorta
17	chr2:64369000-64372000	Active TSS	Colonic Mucosa	Colon
18	chr2:64369000-64372000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr2:64369000-64372000	Active TSS	Fetal Intestine Small	intestine
20	chr2:64369000-64372000	Active TSS	Fetal Stomach	stomach
21	chr2:64369000-64372000	Active TSS	Psoas Muscle	Psoas
22	chr2:64369000-64372000	Active TSS	Rectal Smooth Muscle	rectum
23	chr2:64369000-64372000	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr2:64369000-64372000	Active TSS	NHLF	lung
25	chr2:64369000-64372200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:64369000-64372200	Active TSS	Duodenum Mucosa	Duodenum
27	chr2:64369200-64371800	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr2:64369200-64371800	Active TSS	Brain Anterior Caudate	brain
29	chr2:64369200-64371800	Active TSS	Brain Cingulate Gyrus	brain
30	chr2:64369200-64371800	Active TSS	Brain Hippocampus Middle	brain
31	chr2:64369200-64371800	Active TSS	Fetal Intestine Large	intestine
32	chr2:64369200-64371800	Active TSS	Fetal Kidney	kidney
33	chr2:64369200-64371800	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr2:64369200-64371800	Active TSS	HMEC	breast
35	chr2:64369200-64371800	Active TSS	K562	blood
36	chr2:64369200-64371800	Active TSS	NH-A	brain
37	chr2:64369200-64371800	Active TSS	NHEK	skin
38	chr2:64369200-64372000	Active TSS	H1 Cell Line	embryonic stem cell
39	chr2:64369200-64372000	Active TSS	Brain Substantia Nigra	brain
40	chr2:64369200-64372000	Active TSS	Stomach Smooth Muscle	stomach
41	chr2:64369200-64372200	Active TSS	Colon Smooth Muscle	Colon
42	chr2:64369200-64372200	Active TSS	Osteobl	bone
43	chr2:64369400-64371800	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr2:64369400-64371800	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr2:64369400-64371800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr2:64369400-64371800	Active TSS	HUVEC	blood vessel
47	chr2:64369400-64372000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:64369400-64372200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:64369400-64372200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:64369600-64371800	Active TSS	iPS-20b Cell Line	embryonic stem cell

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