Variant report

Variant	rs73105812
Chromosome Location	chr12:48118187-48118188
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48109020..48109676-chr12:48117627..48118375,2	K562	blood:
2	chr12:48116185..48118625-chr12:48317978..48320277,2	K562	blood:
3	chr12:48097267..48105309-chr12:48111877..48120917,8	MCF-7	breast:
4	chr12:48116790..48119550-chr12:48135315..48137472,2	K562	blood:
5	chr12:48110039..48113166-chr12:48116140..48121059,8	MCF-7	breast:
6	chr12:48115974..48118719-chr12:48231014..48233815,2	K562	blood:
7	chr12:48111480..48113167-chr12:48115489..48118997,3	K562	blood:
8	chr12:48113366..48116147-chr12:48117513..48120473,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000079337	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000005175	Chromatin interaction
ENSG00000111405	Chromatin interaction

Extended variants
information (count: 26 )
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]
rs73105814	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:6 , 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

No data

Chromatin state (count:71 , 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	chr12:48112000-48118200	Weak transcription	Fetal Intestine Large	intestine
4	chr12:48112000-48118400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:48112000-48120000	Weak transcription	Fetal Lung	lung
6	chr12:48112000-48120000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:48112000-48122800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:48112000-48123000	Weak transcription	Pancreas	Pancrea
9	chr12:48112000-48126800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:48112200-48118600	Weak transcription	Stomach Mucosa	stomach
11	chr12:48112200-48119000	Weak transcription	Colonic Mucosa	Colon
12	chr12:48112200-48119200	Weak transcription	GM12878-XiMat	blood
13	chr12:48112200-48125400	Weak transcription	Fetal Thymus	thymus
14	chr12:48112200-48127000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:48112600-48119000	Weak transcription	Right Atrium	heart
16	chr12:48112600-48119200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:48112600-48119400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:48112600-48122200	Weak transcription	Spleen	Spleen
19	chr12:48112600-48128600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:48112800-48119600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:48113000-48123400	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:48113400-48119400	Weak transcription	Adipose Nuclei	Adipose
23	chr12:48113600-48118600	Strong transcription	Stomach Smooth Muscle	stomach
24	chr12:48114000-48120800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:48114000-48134400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:48114200-48122200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:48114200-48132600	Weak transcription	Primary B cells from cord blood	blood
28	chr12:48114600-48128800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:48115200-48126200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr12:48115600-48119000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr12:48115600-48119400	Weak transcription	HSMM	muscle
32	chr12:48115600-48123800	Weak transcription	Thymus	Thymus
33	chr12:48115600-48133600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:48115600-48134200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:48115600-48135000	Weak transcription	Primary T cells from cord blood	blood
36	chr12:48115800-48119200	Weak transcription	HSMMtube	muscle
37	chr12:48115800-48119400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:48115800-48119400	Weak transcription	Osteobl	bone
39	chr12:48115800-48120400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr12:48115800-48120800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr12:48116000-48119200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:48116000-48123600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:48116200-48119000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:48116200-48124800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:48116200-48124800	Enhancers	Placenta	Placenta
46	chr12:48116200-48134000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:48116800-48121800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr12:48116800-48130200	Weak transcription	Aorta	Aorta
49	chr12:48117000-48118600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:48117000-48123800	Weak transcription	Lung	lung

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