Variant report

Variant	rs74089031
Chromosome Location	chr12:49739772-49739773
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	chr12:49739734-49740422	H1-neurons	neurons:	n/a	n/a
2	EGR1	chr12:49739555-49740055	ECC-1	luminal epithelium:	n/a	chr12:49740007-49740020 chr12:49739746-49739759 chr12:49739998-49740008 chr12:49739743-49739757 chr12:49739747-49739757 chr12:49739747-49739757 chr12:49739746-49739759 chr12:49740007-49740017 chr12:49739976-49739990 chr12:49739745-49739759 chr12:49740006-49740021 chr12:49739746-49739759 chr12:49739747-49739756 chr12:49740004-49740018 chr12:49739747-49739758
3	ZBTB7A	chr12:49738646-49742163	ECC-1	luminal epithelium:	n/a	chr12:49739274-49739281 chr12:49741924-49741935 chr12:49741555-49741564
4	EGR1	chr12:49739629-49739845	GM12878	blood:	n/a	chr12:49739746-49739759 chr12:49739743-49739757 chr12:49739747-49739757 chr12:49739747-49739757 chr12:49739746-49739759 chr12:49739745-49739759 chr12:49739746-49739759 chr12:49739747-49739756 chr12:49739747-49739758
5	EGR1	chr12:49739483-49741923	MCF-7	breast:	n/a	chr12:49740466-49740479 chr12:49740522-49740536 chr12:49740007-49740020 chr12:49740612-49740622 chr12:49740520-49740542 chr12:49739746-49739759 chr12:49740608-49740621 chr12:49739998-49740008 chr12:49740466-49740479 chr12:49739743-49739757 chr12:49740526-49740536 chr12:49739747-49739757 chr12:49740608-49740621 chr12:49740525-49740538 chr12:49740524-49740538 chr12:49739747-49739757 chr12:49741709-49741719 chr12:49739746-49739759 chr12:49740799-49740812 chr12:49740007-49740017 chr12:49740608-49740618 chr12:49740526-49740536 chr12:49740526-49740537 chr12:49740608-49740621 chr12:49739976-49739990 chr12:49739745-49739759 chr12:49740461-49740483 chr12:49740006-49740021 chr12:49740609-49740618 chr12:49739746-49739759 chr12:49740607-49740622 chr12:49739747-49739756 chr12:49740607-49740621 chr12:49740525-49740538 chr12:49740613-49740623 chr12:49740467-49740476 chr12:49740466-49740479 chr12:49740466-49740476 chr12:49740608-49740621 chr12:49740004-49740018 chr12:49740526-49740537 chr12:49739747-49739758 chr12:49740525-49740538 chr12:49740526-49740535
6	EGR1	chr12:49739727-49740749	H1-hESC	embryonic stem cell:	n/a	chr12:49740466-49740479 chr12:49740522-49740536 chr12:49740007-49740020 chr12:49740612-49740622 chr12:49740520-49740542 chr12:49739746-49739759 chr12:49740608-49740621 chr12:49739998-49740008 chr12:49740466-49740479 chr12:49739743-49739757 chr12:49740526-49740536 chr12:49739747-49739757 chr12:49740608-49740621 chr12:49740525-49740538 chr12:49740524-49740538 chr12:49739747-49739757 chr12:49739746-49739759 chr12:49740007-49740017 chr12:49740608-49740618 chr12:49740526-49740536 chr12:49740526-49740537 chr12:49740608-49740621 chr12:49739976-49739990 chr12:49739745-49739759 chr12:49740461-49740483 chr12:49740006-49740021 chr12:49740609-49740618 chr12:49739746-49739759 chr12:49740607-49740622 chr12:49739747-49739756 chr12:49740607-49740621 chr12:49740525-49740538 chr12:49740613-49740623 chr12:49740467-49740476 chr12:49740466-49740479 chr12:49740466-49740476 chr12:49740608-49740621 chr12:49740004-49740018 chr12:49740526-49740537 chr12:49739747-49739758 chr12:49740525-49740538 chr12:49740526-49740535
7	CTBP2	chr12:49739324-49741267	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr12:49739596-49739884	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr12:49739596-49741075	H1-neurons	neurons:	n/a	n/a
10	ZBTB7A	chr12:49738673-49741889	ECC-1	luminal epithelium:	n/a	chr12:49739274-49739281 chr12:49741555-49741564
11	SUZ12	chr12:49738478-49741665	NT2-D1	testis:	n/a	n/a
12	CTCF	chr12:49739720-49739870	GM12873	blood:	n/a	n/a
13	SUZ12	chr12:49738988-49740348	H1-hESC	embryonic stem cell:	n/a	n/a
14	RUNX3	chr12:49739632-49739852	GM12878	blood:	n/a	n/a
15	ZBTB7A	chr12:49739713-49740859	K562	blood:	n/a	n/a
16	EGR1	chr12:49739518-49740160	ECC-1	luminal epithelium:	n/a	chr12:49740007-49740020 chr12:49739746-49739759 chr12:49739998-49740008 chr12:49739743-49739757 chr12:49739747-49739757 chr12:49739747-49739757 chr12:49739746-49739759 chr12:49740007-49740017 chr12:49739976-49739990 chr12:49739745-49739759 chr12:49740006-49740021 chr12:49739746-49739759 chr12:49739747-49739756 chr12:49740004-49740018 chr12:49739747-49739758
17	EGR1	chr12:49739571-49740166	K562	blood:	n/a	chr12:49740007-49740020 chr12:49739746-49739759 chr12:49739998-49740008 chr12:49739743-49739757 chr12:49739747-49739757 chr12:49739747-49739757 chr12:49739746-49739759 chr12:49740007-49740017 chr12:49739976-49739990 chr12:49739745-49739759 chr12:49740006-49740021 chr12:49739746-49739759 chr12:49739747-49739756 chr12:49740004-49740018 chr12:49739747-49739758
18	EGR1	chr12:49739593-49740157	K562	blood:	n/a	chr12:49740007-49740020 chr12:49739746-49739759 chr12:49739998-49740008 chr12:49739743-49739757 chr12:49739747-49739757 chr12:49739747-49739757 chr12:49739746-49739759 chr12:49740007-49740017 chr12:49739976-49739990 chr12:49739745-49739759 chr12:49740006-49740021 chr12:49739746-49739759 chr12:49739747-49739756 chr12:49740004-49740018 chr12:49739747-49739758

No.	Distal block	Cell Line	Cell type
1	chr12:49737902..49739791-chr12:50017311..50019000,2	K562	blood:
2	chr12:49739423..49741666-chr12:49907974..49910735,2	MCF-7	breast:
3	chr12:49656587..49660636-chr12:49733539..49743833,13	K562	blood:
4	chr12:49737598..49740843-chr12:49959274..49963250,5	K562	blood:
5	chr12:49739131..49745064-chr12:49758784..49762517,10	MCF-7	breast:
6	chr12:49657182..49662198-chr12:49738070..49742868,13	MCF-7	breast:
7	chr12:49691489..49693674-chr12:49738441..49740198,2	MCF-7	breast:
8	chr12:49685087..49687694-chr12:49738190..49740368,2	MCF-7	breast:
9	chr12:49715312..49722303-chr12:49739075..49744198,13	MCF-7	breast:
10	chr12:49655321..49661148-chr12:49729487..49743115,26	K562	blood:
11	chr12:49738282..49740573-chr12:49961441..49963250,2	K562	blood:
12	chr12:49656742..49663815-chr12:49736558..49745017,19	MCF-7	breast:

Variant related genes	Relation type
DNAJC22	TF binding region
ENSG00000135406	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000258334	Chromatin interaction
ENSG00000123352	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000187778	Chromatin interaction
ENSG00000135451	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11830820	1.00[AMR][1000 genomes]
rs11836976	1.00[AMR][1000 genomes]
rs17853062	1.00[AMR][1000 genomes]
rs56005192	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56014465	1.00[AMR][1000 genomes]
rs56140046	1.00[AMR][1000 genomes]
rs56330550	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57546911	1.00[AMR][1000 genomes]
rs58557116	1.00[AMR][1000 genomes]
rs59493874	1.00[AMR][1000 genomes]
rs60712360	1.00[AMR][1000 genomes]
rs60865902	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61110708	1.00[AMR][1000 genomes]
rs7296117	1.00[AMR][1000 genomes]
rs7299056	1.00[AMR][1000 genomes]
rs7309243	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089008	1.00[AMR][1000 genomes]
rs74089010	1.00[AMR][1000 genomes]
rs74089028	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089030	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089561	1.00[AMR][1000 genomes]
rs74089565	1.00[AMR][1000 genomes]
rs74091029	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49737000-49740400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:49738400-49740800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr12:49738600-49741200	Bivalent Enhancer	Fetal Brain Male	brain
4	chr12:49738800-49740000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:49738800-49740200	Active TSS	Psoas Muscle	Psoas
6	chr12:49738800-49740800	Bivalent Enhancer	Fetal Heart	heart
7	chr12:49738800-49741000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr12:49738800-49741400	Bivalent Enhancer	Fetal Thymus	thymus
9	chr12:49738800-49741800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
10	chr12:49738800-49742000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr12:49738800-49742000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr12:49738800-49742000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr12:49739000-49741200	Bivalent Enhancer	Small Intestine	intestine
14	chr12:49739000-49741400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:49739000-49741800	Active TSS	Aorta	Aorta
16	chr12:49739000-49742000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:49739000-49742000	Enhancers	Lung	lung
18	chr12:49739000-49742200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr12:49739200-49740000	Flanking Bivalent TSS/Enh	HSMM	muscle
20	chr12:49739200-49740200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
21	chr12:49739200-49742000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
22	chr12:49739200-49742200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
23	chr12:49739400-49739800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
24	chr12:49739400-49739800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:49739400-49739800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr12:49739400-49739800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr12:49739400-49739800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr12:49739400-49739800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
29	chr12:49739400-49739800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
30	chr12:49739400-49739800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
31	chr12:49739400-49739800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:49739400-49739800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
33	chr12:49739400-49739800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
34	chr12:49739400-49739800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
35	chr12:49739400-49739800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
36	chr12:49739400-49739800	Flanking Active TSS	A549	lung
37	chr12:49739400-49739800	Flanking Bivalent TSS/Enh	HMEC	breast
38	chr12:49739400-49739800	Flanking Active TSS	HSMMtube	muscle
39	chr12:49739400-49739800	Bivalent Enhancer	K562	blood
40	chr12:49739400-49739800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr12:49739400-49739800	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
42	chr12:49739400-49739800	Flanking Bivalent TSS/Enh	NHLF	lung
43	chr12:49739400-49740000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:49739400-49740000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
45	chr12:49739400-49740000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:49739400-49740000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:49739400-49740000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:49739400-49740000	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:49739400-49740000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
50	chr12:49739400-49740000	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood

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