Variant report

Variant	rs74059961
Chromosome Location	chr12:8851773-8851774
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	MXI1	chr12:8848980-8851974	SK-N-SH	brain:	n/a	chr12:8851347-8851356
2	CEBPB	chr12:8851074-8851902	Hela-S3	cervix:	n/a	n/a
3	UBTF	chr12:8851691-8851801	K562	blood:	n/a	n/a
4	FOS	chr12:8851585-8851910	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr12:8851216-8851831	A549	lung:	n/a	n/a
6	STAT3	chr12:8851624-8851862	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr12:8851567-8851848	K562	blood:	n/a	n/a
8	MAZ	chr12:8849524-8851927	IMR90	lung:	n/a	chr12:8851346-8851359 chr12:8850523-8850533 chr12:8851348-8851357 chr12:8851346-8851359 chr12:8851347-8851357 chr12:8851348-8851357 chr12:8851346-8851361 chr12:8851343-8851362 chr12:8851347-8851358
9	SIN3A	chr12:8849331-8851841	H1-hESC	embryonic stem cell:	n/a	chr12:8850995-8851008 chr12:8851347-8851356
10	FOS	chr12:8851569-8851905	MCF10A-Er-Src	breast:	n/a	n/a
11	MAZ	chr12:8851728-8851776	HepG2	liver:	n/a	n/a
12	STAT3	chr12:8851574-8851907	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr12:8848445-8851808	Hela-S3	cervix:	n/a	n/a
14	MYC	chr12:8851035-8851832	MCF10A-Er-Src	breast:	n/a	chr12:8851346-8851359 chr12:8851348-8851357 chr12:8851346-8851359 chr12:8851347-8851357 chr12:8851348-8851357 chr12:8851346-8851361 chr12:8851343-8851362 chr12:8851347-8851358
15	MXI1	chr12:8851009-8851854	Hela-S3	cervix:	n/a	chr12:8851347-8851356
16	FOS	chr12:8851668-8851905	MCF10A-Er-Src	breast:	n/a	n/a
17	CEBPB	chr12:8851107-8851943	IMR90	lung:	n/a	n/a
18	MAX	chr12:8849742-8851828	Hela-S3	cervix:	n/a	chr12:8851346-8851359 chr12:8850523-8850533 chr12:8851348-8851357 chr12:8851346-8851359 chr12:8851347-8851357 chr12:8851348-8851357 chr12:8851346-8851361 chr12:8851343-8851362 chr12:8851347-8851358
19	STAT3	chr12:8851618-8851993	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr12:8849676-8851941	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr12:8851570-8851913	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr12:8849454-8851831	MCF10A-Er-Src	breast:	n/a	n/a
23	MYC	chr12:8851276-8851870	MCF10A-Er-Src	breast:	n/a	chr12:8851346-8851359 chr12:8851348-8851357 chr12:8851346-8851359 chr12:8851347-8851357 chr12:8851348-8851357 chr12:8851346-8851361 chr12:8851343-8851362 chr12:8851347-8851358

No.	Distal block	Cell Line	Cell type
1	chr12:8850179..8851815-chr12:9101960..9104335,2	MCF-7	breast:
2	chr12:8832727..8836231-chr12:8849066..8853020,4	MCF-7	breast:
3	chr12:8828310..8831126-chr12:8850757..8852342,2	MCF-7	breast:

Variant related genes	Relation type
RIMKLB	TF binding region
ENSG00000139187	Chromatin interaction
ENSG00000166532	Chromatin interaction
ENSG00000003056	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11047500	1.00[EUR][1000 genomes]
rs1476902	1.00[AMR][1000 genomes]
rs3858672	1.00[AMR][1000 genomes]
rs56094803	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56113263	1.00[AMR][1000 genomes]
rs56387756	1.00[AMR][1000 genomes]
rs56837371	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57676185	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57747511	1.00[AMR][1000 genomes]
rs58642152	1.00[EUR][1000 genomes]
rs58866787	1.00[AMR][1000 genomes]
rs59306936	1.00[AMR][1000 genomes]
rs59562279	1.00[AMR][1000 genomes]
rs59824700	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60331702	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61054720	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61431903	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6487353	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036906	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303757	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73038726	1.00[EUR][1000 genomes]
rs74059963	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74059967	1.00[EUR][1000 genomes]
rs74059969	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74059978	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74059985	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74059992	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061803	1.00[AMR][1000 genomes]
rs74061818	1.00[EUR][1000 genomes]
rs7960582	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7968935	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7972763	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13898	chr12:8850160-8851893	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv557351	chr12:8850350-8851846	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv557354	chr12:8850761-8851846	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8849000-8852200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:8849000-8852600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:8849200-8851800	Active TSS	Fetal Muscle Trunk	muscle
4	chr12:8849200-8852200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:8849200-8852600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:8849200-8852600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:8849200-8852800	Active TSS	Aorta	Aorta
8	chr12:8849400-8851800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:8849400-8851800	Active TSS	Right Ventricle	heart
10	chr12:8849400-8852400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:8849400-8852800	Active TSS	H1 Cell Line	embryonic stem cell
12	chr12:8849600-8851800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:8849600-8851800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:8849600-8851800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:8849600-8851800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:8849600-8851800	Active TSS	Brain Substantia Nigra	brain
17	chr12:8849600-8851800	Active TSS	Left Ventricle	heart
18	chr12:8849600-8851800	Active TSS	Ovary	ovary
19	chr12:8849600-8851800	Active TSS	HSMMtube	muscle
20	chr12:8849600-8852000	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr12:8849600-8852000	Active TSS	Fetal Kidney	kidney
22	chr12:8849600-8852000	Active TSS	NHLF	lung
23	chr12:8849600-8852200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:8849600-8852200	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr12:8849600-8852200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr12:8849600-8852200	Active TSS	Brain Anterior Caudate	brain
27	chr12:8849600-8852200	Active TSS	Fetal Brain Female	brain
28	chr12:8849600-8852200	Active TSS	Stomach Smooth Muscle	stomach
29	chr12:8849600-8852400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:8849600-8852400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr12:8849600-8852400	Active TSS	Fetal Muscle Leg	muscle
32	chr12:8849600-8852400	Active TSS	Rectal Smooth Muscle	rectum
33	chr12:8849600-8852400	Active TSS	K562	blood
34	chr12:8849600-8852600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:8849600-8852800	Active TSS	Brain Cingulate Gyrus	brain
36	chr12:8849600-8852800	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr12:8849600-8853000	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr12:8849800-8852200	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr12:8849800-8852400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:8850000-8851800	Active TSS	Placenta	Placenta
41	chr12:8850000-8852200	Active TSS	NHEK	skin
42	chr12:8850200-8852400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:8850200-8852400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:8851000-8852800	Active TSS	Brain Germinal Matrix	brain
45	chr12:8851200-8851800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr12:8851200-8851800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr12:8851200-8851800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr12:8851200-8851800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr12:8851200-8851800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
50	chr12:8851200-8851800	Active TSS	Liver	Liver

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