Variant report

Variant	rs73105818
Chromosome Location	chr12:48120321-48120322
allele	C/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	MXI1	chr12:48118910-48120442	IMR90	lung:	n/a	n/a
2	MAZ	chr12:48119346-48120334	IMR90	lung:	n/a	chr12:48119825-48119841 chr12:48119834-48119843
3	POLR2A	chr12:48120210-48120591	ECC-1	luminal epithelium:	n/a	n/a
4	RCOR1	chr12:48119759-48120339	GM12878	blood:	n/a	n/a

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	chr12:48119917..48122886-chr12:48172131..48173866,2	K562	blood:
5	chr12:48119660..48121319-chr12:48130361..48132354,2	MCF-7	breast:
6	chr12:48113366..48116147-chr12:48117513..48120473,4	MCF-7	breast:

Variant related genes	Relation type
ENDOU	TF binding region
ENSG00000111405	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000061273	Chromatin interaction
ENSG00000211584	Chromatin interaction
ENSG00000005175	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12423045	1.00[AFR][1000 genomes]
rs12425816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35784744	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]
rs73104138	1.00[AFR][1000 genomes]
rs73104143	1.00[AFR][1000 genomes]
rs73104148	1.00[AFR][1000 genomes]
rs73104152	1.00[AFR][1000 genomes]
rs73104155	1.00[AFR][1000 genomes]
rs73104161	1.00[AFR][1000 genomes]
rs73104163	1.00[AFR][1000 genomes]
rs73104177	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73104184	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73104188	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73104190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73104197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105812	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	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
8	nsv527470	chr12:48119955-48190166	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 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	chr12:48112000-48122800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:48112000-48123000	Weak transcription	Pancreas	Pancrea
5	chr12:48112000-48126800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:48112200-48125400	Weak transcription	Fetal Thymus	thymus
7	chr12:48112200-48127000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:48112600-48122200	Weak transcription	Spleen	Spleen
9	chr12:48112600-48128600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:48113000-48123400	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:48114000-48120800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:48114000-48134400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:48114200-48122200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:48114200-48132600	Weak transcription	Primary B cells from cord blood	blood
15	chr12:48114600-48128800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:48115200-48126200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:48115600-48123800	Weak transcription	Thymus	Thymus
18	chr12:48115600-48133600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:48115600-48134200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:48115600-48135000	Weak transcription	Primary T cells from cord blood	blood
21	chr12:48115800-48120400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr12:48115800-48120800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr12:48116000-48123600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:48116200-48124800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:48116200-48124800	Enhancers	Placenta	Placenta
26	chr12:48116200-48134000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:48116800-48121800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:48116800-48130200	Weak transcription	Aorta	Aorta
29	chr12:48117000-48123800	Weak transcription	Lung	lung
30	chr12:48117000-48129000	Weak transcription	Psoas Muscle	Psoas
31	chr12:48117200-48122800	Weak transcription	Ovary	ovary
32	chr12:48117600-48120800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:48117600-48121800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr12:48117800-48120800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:48117800-48121000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:48117800-48123000	Weak transcription	Liver	Liver
37	chr12:48118200-48128800	Weak transcription	Fetal Intestine Small	intestine
38	chr12:48118600-48122600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr12:48119000-48121200	Enhancers	Primary B cells from peripheral blood	blood
40	chr12:48119000-48121200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:48119000-48121600	Enhancers	Brain Angular Gyrus	brain
42	chr12:48119000-48126000	Enhancers	NHDF-Ad	bronchial
43	chr12:48119200-48121200	Enhancers	GM12878-XiMat	blood
44	chr12:48119200-48125000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:48119400-48120400	Enhancers	HSMM	muscle
46	chr12:48119400-48120600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr12:48119400-48120600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:48119400-48120600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr12:48119400-48120600	Enhancers	NHLF	lung
50	chr12:48119400-48121200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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