Variant report

Variant	rs188946854
Chromosome Location	chr12:57852826-57852827
allele	A/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	POLR2A	chr12:57852558-57853696	SK-N-MC	brain:	n/a	n/a
2	MYC	chr12:57852693-57853653	K562	blood:	n/a	n/a
3	SP1	chr12:57852528-57856905	A549	lung:	n/a	chr12:57855088-57855100 chr12:57854788-57854797 chr12:57855421-57855430 chr12:57854019-57854032 chr12:57856662-57856671 chr12:57855543-57855552 chr12:57855232-57855244 chr12:57855089-57855099 chr12:57855429-57855443 chr12:57855571-57855580 chr12:57854556-57854565 chr12:57855541-57855553 chr12:57853860-57853872 chr12:57854024-57854036 chr12:57855089-57855098 chr12:57855570-57855582 chr12:57856000-57856009 chr12:57853899-57853911 chr12:57854788-57854797 chr12:57855233-57855247 chr12:57856151-57856163 chr12:57856152-57856161 chr12:57855594-57855608 chr12:57855090-57855099 chr12:57855547-57855561 chr12:57856000-57856014 chr12:57855999-57856011 chr12:57853861-57853871 chr12:57854546-57854560 chr12:57855232-57855244 chr12:57853861-57853870 chr12:57855570-57855582 chr12:57856152-57856166 chr12:57853659-57853668 chr12:57855567-57855581 chr12:57855572-57855581 chr12:57855542-57855551 chr12:57853154-57853161 chr12:57854024-57854036 chr12:57856153-57856162 chr12:57855090-57855099 chr12:57856001-57856010 chr12:57855085-57855099 chr12:57856525-57856539 chr12:57856151-57856163 chr12:57854788-57854798 chr12:57855999-57856011 chr12:57854025-57854034 chr12:57853836-57853850 chr12:57856152-57856162 chr12:57855232-57855243 chr12:57854021-57854035 chr12:57855114-57855127 chr12:57853901-57853910 chr12:57855089-57855099 chr12:57855088-57855100 chr12:57855950-57855964 chr12:57856000-57856010 chr12:57855543-57855552 chr12:57854557-57854566
4	POLR2A	chr12:57852195-57853555	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr12:57852527-57853046	GM12878	blood:	n/a	n/a
6	RAD21	chr12:57852623-57853764	HCT-116	colon:	n/a	chr12:57853738-57853752 chr12:57853045-57853059 chr12:57853044-57853063 chr12:57853354-57853373
7	USF1	chr12:57852740-57852904	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:57852714-57853310	K562	blood:	n/a	n/a
9	NFIC	chr12:57852570-57853849	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr12:57852790-57853281	H1-hESC	embryonic stem cell:	n/a	chr12:57853045-57853066 chr12:57853046-57853059 chr12:57853043-57853061 chr12:57853044-57853060
11	RUNX3	chr12:57852648-57853698	GM12878	blood:	n/a	chr12:57853295-57853304 chr12:57853183-57853200 chr12:57853288-57853303 chr12:57853295-57853304
12	CTCF	chr12:57852700-57852850	GM12869	blood:	n/a	n/a
13	ZNF143	chr12:57852710-57853539	GM12878	blood:	n/a	n/a
14	MAX	chr12:57852765-57853790	K562	blood:	n/a	n/a
15	ZBTB7A	chr12:57852790-57854062	K562	blood:	n/a	n/a
16	EP300	chr12:57852649-57853396	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:57852552-57853473	Hela-S3	cervix:	n/a	n/a
18	SP1	chr12:57852559-57853865	HCT-116	colon:	n/a	chr12:57853659-57853668 chr12:57853154-57853161 chr12:57853836-57853850
19	CTCF	chr12:57852767-57853236	K562	blood:	n/a	chr12:57853045-57853066 chr12:57853046-57853059 chr12:57853043-57853061 chr12:57853044-57853060
20	NFE2	chr12:57852718-57853100	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:57852571-57853344	GM15510	blood:	n/a	n/a
22	MAZ	chr12:57852663-57853735	Hela-S3	cervix:	n/a	n/a
23	RFX5	chr12:57852661-57853186	GM12878	blood:	n/a	chr12:57852885-57852899 chr12:57852887-57852896
24	POLR2A	chr12:57852638-57853736	HUVEC	blood vessel:	n/a	n/a
25	CREB1	chr12:57852771-57853808	A549	lung:	n/a	n/a
26	RUNX3	chr12:57852762-57853700	GM12878	blood:	n/a	chr12:57853295-57853304 chr12:57853183-57853200 chr12:57853288-57853303 chr12:57853295-57853304
27	RAD21	chr12:57852783-57853304	MCF-7	breast:	n/a	chr12:57853045-57853059 chr12:57853044-57853063
28	STAT5A	chr12:57852780-57853526	K562	blood:	n/a	chr12:57853437-57853449
29	POLR2A	chr12:57852633-57853084	GM12891	blood:	n/a	n/a
30	RAD21	chr12:57852773-57853296	ECC-1	luminal epithelium:	n/a	chr12:57853045-57853059 chr12:57853044-57853063
31	RAD21	chr12:57852614-57853632	HCT-116	colon:	n/a	chr12:57853045-57853059 chr12:57853044-57853063 chr12:57853354-57853373
32	ELK1	chr12:57852652-57853546	GM12878	blood:	n/a	n/a
33	MBD4	chr12:57852725-57853253	HepG2	liver:	n/a	n/a
34	CTCF	chr12:57852731-57853296	A549	lung:	n/a	chr12:57853045-57853066 chr12:57853046-57853059 chr12:57853043-57853061 chr12:57853044-57853060
35	MAX	chr12:57852581-57853843	ECC-1	luminal epithelium:	n/a	n/a
36	ZKSCAN1	chr12:57852773-57853107	Hela-S3	cervix:	n/a	n/a
37	USF2	chr12:57852633-57853439	Hela-S3	cervix:	n/a	n/a
38	USF1	chr12:57852758-57853197	GM12878	blood:	n/a	n/a
39	MAFK	chr12:57852641-57853406	K562	blood:	n/a	chr12:57853368-57853388 chr12:57853370-57853386 chr12:57853371-57853385
40	MAX	chr12:57852738-57853664	GM12878	blood:	n/a	n/a
41	KAP1	chr12:57852651-57853476	HEK293	kidney:	n/a	n/a
42	CREB1	chr12:57852789-57853758	ECC-1	luminal epithelium:	n/a	n/a
43	FOXM1	chr12:57852797-57853298	GM12878	blood:	n/a	n/a
44	FOSL2	chr12:57852567-57853743	A549	lung:	n/a	n/a
45	MXI1	chr12:57852694-57853625	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr12:57852776-57853271	A549	lung:	n/a	n/a
47	ZMIZ1	chr12:57852728-57853418	K562	blood:	n/a	n/a
48	ELF1	chr12:57852790-57853774	GM12878	blood:	n/a	n/a
49	POLR2A	chr12:57852811-57853639	HCT-116	colon:	n/a	n/a
50	CTCF	chr12:57852785-57853505	IMR90	lung:	n/a	chr12:57853045-57853066 chr12:57853046-57853059 chr12:57853043-57853061 chr12:57853355-57853376 chr12:57853044-57853060

No.	Distal block	Cell Line	Cell type
1	chr12:57852621..57854513-chr12:58130296..58131944,2	K562	blood:
2	chr12:57852643..57853481-chr12:58176405..58177025,2	K562	blood:
3	chr12:57625841..57628130-chr12:57851805..57854009,2	K562	blood:
4	chr1:226186864..226187449-chr12:57852398..57853191,2	Hela-S3	cervix:
5	chr12:57849885..57859254-chr12:57908711..57915821,16	K562	blood:
6	chr12:57852367..57853297-chr18:2655179..2655859,2	Hela-S3	cervix:
7	chr12:57851014..57853081-chr12:57861682..57863559,2	K562	blood:
8	chr12:57622711..57625468-chr12:57850226..57853031,2	K562	blood:
9	chr12:57852555..57853055-chr3:33155341..33155929,2	Hela-S3	cervix:
10	chr12:57693773..57695685-chr12:57852034..57854514,2	K562	blood:
11	chr12:57850914..57853325-chr12:57864861..57866988,3	K562	blood:
12	chr12:57852034..57858739-chr12:57911478..57917144,8	MCF-7	breast:
13	chr12:57851728..57854572-chr12:58144859..58146430,2	MCF-7	breast:
14	chr12:57852567..57853136-chr12:58087060..58087719,2	MCF-7	breast:
15	chr12:57821945..57831494-chr12:57839441..57852842,32	K562	blood:
16	chr12:57851512..57853202-chr12:57880450..57882200,2	K562	blood:
17	chr12:57851318..57853118-chr12:57916144..57917721,2	K562	blood:
18	chr12:57852790..57853327-chr12:58015168..58015867,2	MCF-7	breast:
19	chr12:57852282..57853274-chr14:74318374..74319293,2	Hela-S3	cervix:
20	chr12:57820715..57827591-chr12:57847165..57857509,18	K562	blood:
21	chr12:57848876..57851404-chr12:57851445..57853731,2	MCF-7	breast:
22	chr12:57850715..57853202-chr12:57880450..57882915,3	K562	blood:
23	chr12:57850154..57858218-chr12:57910899..57919538,20	K562	blood:

Variant related genes	Relation type
GLI1	TF binding region
ENSG00000135439	Chromatin interaction
ENSG00000143751	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000175189	Chromatin interaction
ENSG00000140043	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000123297	Chromatin interaction
ENSG00000266405	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000179912	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000258001	Chromatin interaction
ENSG00000258653	Chromatin interaction
ENSG00000123329	Chromatin interaction
ENSG00000101596	Chromatin interaction
ENSG00000170275	Chromatin interaction
ENSG00000182199	Chromatin interaction
ENSG00000135452	Chromatin interaction
ENSG00000139269	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
5	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
8	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
9	nsv469411	chr12:57844049-57921188	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
10	nsv559032	chr12:57844049-57921188	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv559033	chr12:57848639-57946477	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
12	nsv899119	chr12:57851182-57923451	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv8974	chr12:57852779-57865881	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57852200-57853000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:57852200-57853400	Flanking Active TSS	NHEK	skin
3	chr12:57852400-57853000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr12:57852400-57853000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:57852400-57853000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:57852400-57853000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr12:57852400-57853000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:57852400-57853000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:57852400-57853000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:57852400-57853000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr12:57852400-57853000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr12:57852400-57853000	Flanking Active TSS	A549	lung
13	chr12:57852400-57853000	Flanking Active TSS	Hela-S3	cervix
14	chr12:57852400-57853000	Flanking Active TSS	HepG2	liver
15	chr12:57852400-57853000	Flanking Active TSS	K562	blood
16	chr12:57852400-57853400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr12:57852400-57853400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:57852400-57853400	Flanking Active TSS	HSMMtube	muscle
19	chr12:57852400-57853600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr12:57852400-57853600	Flanking Active TSS	Dnd41	blood
21	chr12:57852400-57853600	Flanking Active TSS	HUVEC	blood vessel
22	chr12:57852400-57853800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr12:57852400-57853800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr12:57852400-57853800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:57852400-57853800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:57852400-57854600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr12:57852400-57856600	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr12:57852400-57856800	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr12:57852600-57853000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:57852600-57853000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:57852600-57853000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:57852600-57853000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:57852600-57853000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:57852600-57853000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr12:57852600-57853000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:57852600-57853000	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr12:57852600-57853000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr12:57852600-57853000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:57852600-57853000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:57852600-57853000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr12:57852600-57853000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr12:57852600-57853000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:57852600-57853000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:57852600-57853000	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr12:57852600-57853000	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr12:57852600-57853000	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr12:57852600-57853000	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr12:57852600-57853000	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr12:57852600-57853000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:57852600-57853000	Flanking Active TSS	Brain Substantia Nigra	brain

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