Variant report

Variant	rs73105814
Chromosome Location	chr12:48119600-48119601
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	MXI1	chr12:48118910-48120442	IMR90	lung:	n/a	n/a
2	NFYB	chr12:48119587-48119726	Hela-S3	cervix:	n/a	chr12:48119693-48119705 chr12:48119691-48119706 chr12:48119692-48119702
3	NFYB	chr12:48119529-48119877	GM12878	blood:	n/a	chr12:48119693-48119705 chr12:48119691-48119706 chr12:48119692-48119702
4	MAZ	chr12:48119346-48120334	IMR90	lung:	n/a	chr12:48119825-48119841 chr12:48119834-48119843
5	MXI1	chr12:48119591-48119960	GM12878	blood:	n/a	n/a
6	HEY1	chr12:48119287-48119616	K562	blood:	n/a	n/a
7	MAX	chr12:48119486-48120089	ECC-1	luminal epithelium:	n/a	chr12:48119821-48119831 chr12:48119825-48119841 chr12:48119834-48119843
8	MYC	chr12:48119281-48120085	NB4	blood:	n/a	chr12:48119821-48119831 chr12:48119825-48119841 chr12:48119834-48119843
9	POLR2A	chr12:48118801-48120094	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr12:48119523-48120187	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr12:48119465-48119615	MCF10A-Er-Src	breast:	n/a	n/a
12	POU2F2	chr12:48119583-48120076	GM12878	blood:	n/a	chr12:48119862-48119872 chr12:48119860-48119873 chr12:48119923-48119935 chr12:48119861-48119871 chr12:48119859-48119874 chr12:48119862-48119871 chr12:48119860-48119873 chr12:48119863-48119870 chr12:48119855-48119877 chr12:48119862-48119870 chr12:48119862-48119872 chr12:48119857-48119875 chr12:48119861-48119873 chr12:48119860-48119871
13	POLR2A	chr12:48119291-48119831	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr12:48119193-48119614	K562	blood:	n/a	n/a
15	MAX	chr12:48119561-48120043	NB4	blood:	n/a	chr12:48119821-48119831 chr12:48119825-48119841 chr12:48119834-48119843

No.	Distal block	Cell Line	Cell type
1	chr12:48097267..48105309-chr12:48111877..48120917,8	MCF-7	breast:
2	chr12:48110039..48113166-chr12:48116140..48121059,8	MCF-7	breast:
3	chr12:48118580..48122371-chr12:48212442..48215354,3	MCF-7	breast:
4	chr12:48113366..48116147-chr12:48117513..48120473,4	MCF-7	breast:

Variant related genes	Relation type
ENDOU	TF binding region
ENSG00000257433	Chromatin interaction
ENSG00000061273	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000005175	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12425816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35784744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57848393	1.00[ASN][1000 genomes]
rs60186089	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67201012	1.00[ASN][1000 genomes]
rs67408202	1.00[ASN][1000 genomes]
rs73104115	0.81[AFR][1000 genomes]
rs73104144	1.00[AFR][1000 genomes]
rs73104177	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73104184	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73104188	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73104190	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73104197	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105847	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv470289	chr12:48110551-48180508	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
6	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
7	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48102800-48125000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:48111400-48124000	Weak transcription	Gastric	stomach
3	chr12:48112000-48120000	Weak transcription	Fetal Lung	lung
4	chr12:48112000-48120000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:48112000-48122800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:48112000-48123000	Weak transcription	Pancreas	Pancrea
7	chr12:48112000-48126800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:48112200-48125400	Weak transcription	Fetal Thymus	thymus
9	chr12:48112200-48127000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:48112600-48122200	Weak transcription	Spleen	Spleen
11	chr12:48112600-48128600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:48112800-48119600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:48113000-48123400	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:48114000-48120800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:48114000-48134400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:48114200-48122200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:48114200-48132600	Weak transcription	Primary B cells from cord blood	blood
18	chr12:48114600-48128800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:48115200-48126200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:48115600-48123800	Weak transcription	Thymus	Thymus
21	chr12:48115600-48133600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:48115600-48134200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:48115600-48135000	Weak transcription	Primary T cells from cord blood	blood
24	chr12:48115800-48120400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr12:48115800-48120800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr12:48116000-48123600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:48116200-48124800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:48116200-48124800	Enhancers	Placenta	Placenta
29	chr12:48116200-48134000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:48116800-48121800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:48116800-48130200	Weak transcription	Aorta	Aorta
32	chr12:48117000-48123800	Weak transcription	Lung	lung
33	chr12:48117000-48129000	Weak transcription	Psoas Muscle	Psoas
34	chr12:48117200-48122800	Weak transcription	Ovary	ovary
35	chr12:48117400-48119600	Weak transcription	Fetal Stomach	stomach
36	chr12:48117600-48119600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:48117600-48119600	Weak transcription	Fetal Heart	heart
38	chr12:48117600-48120800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:48117600-48121800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr12:48117800-48119600	Weak transcription	Brain Anterior Caudate	brain
41	chr12:48117800-48120800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:48117800-48121000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:48117800-48123000	Weak transcription	Liver	Liver
44	chr12:48118000-48119800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:48118200-48128800	Weak transcription	Fetal Intestine Small	intestine
46	chr12:48118600-48120000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:48118600-48120000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:48118600-48122600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:48119000-48119800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:48119000-48120000	Enhancers	Right Atrium	heart

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