Variant report

Variant	rs73119347
Chromosome Location	chr12:57854782-57854783
allele	G/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	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
2	CTCF	chr12:57854606-57854841	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr12:57854671-57855427	H1-hESC	embryonic stem cell:	n/a	chr12:57855146-57855157
4	CTCFL	chr12:57854603-57854828	K562	blood:	n/a	n/a
5	CTCF	chr12:57854700-57854850	A549	lung:	n/a	n/a
6	CTCF	chr12:57854654-57854850	H1-hESC	embryonic stem cell:	n/a	n/a
7	NR2F2	chr12:57854254-57854917	K562	blood:	n/a	n/a
8	JUND	chr12:57854615-57856806	A549	lung:	n/a	chr12:57855936-57855945 chr12:57855597-57855606 chr12:57855938-57855945 chr12:57855935-57855946 chr12:57856002-57856011 chr12:57855935-57855947 chr12:57856274-57856288
9	PBX3	chr12:57854697-57855709	A549	lung:	n/a	n/a
10	CTCF	chr12:57853855-57857058	A549	lung:	n/a	chr12:57856610-57856631 chr12:57854445-57854463 chr12:57854447-57854468 chr12:57854448-57854457 chr12:57856617-57856630 chr12:57854448-57854461 chr12:57856579-57856592 chr12:57856615-57856633
11	SIX5	chr12:57854619-57856875	A549	lung:	n/a	chr12:57855051-57855060
12	POLR2A	chr12:57854437-57855351	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr12:57854574-57855076	A549	lung:	n/a	n/a
14	TBP	chr12:57854681-57855286	H1-hESC	embryonic stem cell:	n/a	n/a
15	MTA3	chr12:57854094-57854807	GM12878	blood:	n/a	n/a
16	CTCFL	chr12:57854654-57854783	K562	blood:	n/a	n/a
17	EP300	chr12:57854561-57855587	H1-hESC	embryonic stem cell:	n/a	chr12:57855472-57855488
18	CTCF	chr12:57854640-57854790	K562	blood:	n/a	n/a
19	YY1	chr12:57854689-57855385	H1-hESC	embryonic stem cell:	n/a	chr12:57855117-57855127 chr12:57855089-57855098 chr12:57854738-57854749
20	HMGN3	chr12:57854668-57854806	K562	blood:	n/a	n/a
21	CTCF	chr12:57854740-57854890	HA-sp	spinal cord:	n/a	n/a
22	CTCF	chr12:57854640-57854790	GM12869	blood:	n/a	n/a
23	CTCF	chr12:57854700-57854850	NB4	blood:	n/a	n/a
24	USF1	chr12:57854663-57854984	H1-hESC	embryonic stem cell:	n/a	n/a
25	TCF12	chr12:57852429-57856996	A549	lung:	n/a	chr12:57854335-57854342 chr12:57856056-57856063
26	POLR2A	chr12:57854720-57855089	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr12:57854640-57854790	GM12870	blood:	n/a	n/a
28	SP1	chr12:57852535-57856861	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
29	REST	chr12:57854369-57854823	A549	lung:	n/a	chr12:57854567-57854580 chr12:57854572-57854581
30	POLR2A	chr12:57854661-57854985	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr12:57854408-57856858	H1-hESC	embryonic stem cell:	n/a	n/a
32	GATA3	chr12:57852767-57856918	A549	lung:	n/a	chr12:57853695-57853706 chr12:57856399-57856409 chr12:57855281-57855292
33	POLR2A	chr12:57854596-57854946	A549	lung:	n/a	n/a
34	BCL3	chr12:57853897-57856889	A549	lung:	n/a	chr12:57855572-57855581 chr12:57854572-57854581 chr12:57854557-57854566 chr12:57856000-57856009 chr12:57855538-57855551
35	CTBP2	chr12:57854323-57855413	H1-hESC	embryonic stem cell:	n/a	n/a
36	ZBTB7A	chr12:57854589-57854801	HepG2	liver:	n/a	n/a
37	CTCF	chr12:57854740-57854890	Caco-2	colon:	n/a	n/a
38	SP1	chr12:57854583-57855885	H1-hESC	embryonic stem cell:	n/a	chr12:57855088-57855100 chr12:57854788-57854797 chr12:57855421-57855430 chr12:57855543-57855552 chr12:57855232-57855244 chr12:57855089-57855099 chr12:57855429-57855443 chr12:57855571-57855580 chr12:57855541-57855553 chr12:57855089-57855098 chr12:57855570-57855582 chr12:57854788-57854797 chr12:57855233-57855247 chr12:57855594-57855608 chr12:57855090-57855099 chr12:57855547-57855561 chr12:57855232-57855244 chr12:57855570-57855582 chr12:57855567-57855581 chr12:57855572-57855581 chr12:57855542-57855551 chr12:57855090-57855099 chr12:57855085-57855099 chr12:57854788-57854798 chr12:57855232-57855243 chr12:57855114-57855127 chr12:57855089-57855099 chr12:57855088-57855100 chr12:57855543-57855552
39	CTCF	chr12:57854660-57854810	HRE	kidney:	n/a	n/a
40	TAF1	chr12:57854688-57855360	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr12:57854680-57854830	HepG2	liver:	n/a	n/a
42	EP300	chr12:57854151-57856860	A549	lung:	n/a	chr12:57856103-57856119 chr12:57855936-57855945 chr12:57855472-57855488 chr12:57854554-57854570 chr12:57854167-57854181
43	HCFC1	chr12:57854691-57857048	Hela-S3	cervix:	n/a	n/a
44	NR2F2	chr12:57854075-57854806	K562	blood:	n/a	n/a
45	CTCF	chr12:57854640-57854790	GM12871	blood:	n/a	n/a
46	USF1	chr12:57854723-57855053	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr12:57852555-57854782	A549	lung:	n/a	chr12:57854560-57854570
48	SIN3AK20	chr12:57854692-57855052	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr12:57854660-57854810	WERI-Rb-1	eye:	n/a	n/a
50	CREB1	chr12:57854515-57855788	H1-hESC	embryonic stem cell:	n/a	chr12:57855145-57855158

No.	Distal block	Cell Line	Cell type
1	chr12:57854178..57856393-chr12:58005789..58008256,3	K562	blood:
2	chr12:57849885..57859254-chr12:57908711..57915821,16	K562	blood:
3	chr12:57854130..57857750-chr12:57881459..57884101,5	K562	blood:
4	chr12:57848732..57851043-chr12:57853897..57856236,2	MCF-7	breast:
5	chr12:57822750..57826133-chr12:57852904..57855936,4	K562	blood:
6	chr12:57852034..57858739-chr12:57911478..57917144,8	MCF-7	breast:
7	chr12:57853636..57856322-chr12:58144624..58147677,3	K562	blood:
8	chr12:57633619..57639143-chr12:57853203..57857806,7	K562	blood:
9	chr12:57852892..57855767-chr12:58158814..58160402,2	K562	blood:
10	chr12:57853636..57856322-chr12:58144624..58146178,2	K562	blood:
11	chr12:57820715..57827591-chr12:57847165..57857509,18	K562	blood:
12	chr12:57850154..57858218-chr12:57910899..57919538,20	K562	blood:

Variant related genes	Relation type
GLI1	TF binding region
ENSG00000135446	Chromatin interaction
ENSG00000179912	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000123329	Chromatin interaction
ENSG00000111012	Chromatin interaction
ENSG00000185633	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000258001	Chromatin interaction
ENSG00000240771	Chromatin interaction
ENSG00000139269	Chromatin interaction
ENSG00000175197	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs61734545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73119345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57852400-57856600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:57852400-57856800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr12:57852600-57856600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr12:57852600-57856600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr12:57852800-57854800	Active TSS	Right Atrium	heart
6	chr12:57852800-57856400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr12:57852800-57856600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr12:57852800-57856600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:57852800-57856600	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr12:57852800-57856600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr12:57852800-57856600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:57852800-57856600	Active TSS	Aorta	Aorta
13	chr12:57853000-57856600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr12:57853000-57856600	Active TSS	A549	lung
15	chr12:57853000-57856800	Active TSS	Brain Substantia Nigra	brain
16	chr12:57853000-57856800	Active TSS	Fetal Kidney	kidney
17	chr12:57853400-57856400	Active TSS	NHLF	lung
18	chr12:57853400-57856600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr12:57853800-57854800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:57853800-57854800	Enhancers	Liver	Liver
21	chr12:57853800-57854800	Enhancers	Fetal Heart	heart
22	chr12:57853800-57855000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
23	chr12:57853800-57855000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr12:57853800-57855800	Weak transcription	Gastric	stomach
25	chr12:57854000-57854800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:57854000-57854800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:57854000-57854800	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr12:57854000-57854800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr12:57854000-57855000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:57854000-57855200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:57854000-57855400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:57854000-57855400	Flanking Active TSS	Hela-S3	cervix
33	chr12:57854000-57855400	Flanking Active TSS	K562	blood
34	chr12:57854000-57855600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr12:57854000-57856600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:57854000-57856600	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr12:57854000-57856800	Enhancers	Spleen	Spleen
38	chr12:57854200-57854800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:57854200-57854800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:57854200-57854800	Bivalent Enhancer	Fetal Thymus	thymus
41	chr12:57854200-57854800	Enhancers	HSMM	muscle
42	chr12:57854200-57855000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:57854200-57855000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
44	chr12:57854200-57855000	Bivalent Enhancer	HUVEC	blood vessel
45	chr12:57854200-57855200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
46	chr12:57854200-57855200	Bivalent/Poised TSS	Fetal Lung	lung
47	chr12:57854200-57855200	Flanking Active TSS	GM12878-XiMat	blood
48	chr12:57854200-57855400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr12:57854200-57855400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:57854200-57855400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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