Variant report

Variant	rs73105899
Chromosome Location	chr12:48172778-48172779
allele	C/G
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48164603..48170216-chr12:48170812..48178110,12	MCF-7	breast:
2	chr12:48137536..48138067-chr12:48172715..48173399,2	MCF-7	breast:
3	chr12:48135977..48137705-chr12:48172310..48175279,2	K562	blood:
4	chr12:48144826..48150380-chr12:48164026..48173211,11	K562	blood:
5	chr12:48128880..48137705-chr12:48169546..48175532,12	K562	blood:
6	chr12:48171729..48173429-chr12:48213188..48215174,2	K562	blood:
7	chr12:48135687..48136666-chr12:48172730..48173687,4	MCF-7	breast:
8	chr12:48100044..48102327-chr12:48172269..48174749,2	K562	blood:
9	chr12:48108589..48112284-chr12:48169450..48173129,5	MCF-7	breast:
10	chr12:48110716..48112892-chr12:48170782..48173375,2	K562	blood:
11	chr12:48099987..48101621-chr12:48172396..48174899,2	MCF-7	breast:
12	chr12:48135755..48136726-chr12:48172632..48173703,7	K562	blood:
13	chr12:48108810..48109754-chr12:48172755..48173734,6	K562	blood:
14	chr12:48172435..48173989-chr12:48211088..48213424,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000079337	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000061273	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000211584	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11608804	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2240108	0.92[AMR][1000 genomes]
rs3759408	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73107911	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7485961	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh 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	66 gene(s)	inside rSNPs	diseases
9	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48167600-48174000	Enhancers	Spleen	Spleen
2	chr12:48168000-48172800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:48168000-48173000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:48168000-48173000	Enhancers	Lung	lung
5	chr12:48168000-48173000	Enhancers	Right Atrium	heart
6	chr12:48168000-48173200	Enhancers	Placenta	Placenta
7	chr12:48168000-48173200	Enhancers	Ovary	ovary
8	chr12:48168000-48173600	Enhancers	Left Ventricle	heart
9	chr12:48168000-48173800	Enhancers	Colon Smooth Muscle	Colon
10	chr12:48168000-48173800	Enhancers	Esophagus	oesophagus
11	chr12:48168000-48174000	Enhancers	Fetal Thymus	thymus
12	chr12:48168000-48174200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:48168000-48174800	Weak transcription	Fetal Intestine Large	intestine
14	chr12:48168000-48175000	Weak transcription	NH-A	brain
15	chr12:48168000-48175400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:48168000-48177200	Weak transcription	Small Intestine	intestine
17	chr12:48168200-48172800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:48168200-48172800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:48168200-48172800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:48168200-48173000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:48168200-48173000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:48168200-48173000	Enhancers	NHDF-Ad	bronchial
23	chr12:48168200-48173200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:48168200-48173200	Enhancers	Primary hematopoietic stem cells	blood
25	chr12:48168200-48173200	Enhancers	Duodenum Mucosa	Duodenum
26	chr12:48168200-48173200	Enhancers	HMEC	breast
27	chr12:48168200-48173400	Weak transcription	Fetal Intestine Small	intestine
28	chr12:48168200-48173600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:48168200-48173600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr12:48168200-48173600	Enhancers	Adipose Nuclei	Adipose
31	chr12:48168200-48173600	Enhancers	Fetal Muscle Leg	muscle
32	chr12:48168200-48174800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:48168200-48175600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:48168200-48195200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr12:48168400-48172800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:48168400-48172800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr12:48168400-48173000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:48168400-48174800	Weak transcription	Primary T cells from cord blood	blood
39	chr12:48168600-48175600	Weak transcription	Liver	Liver
40	chr12:48168600-48178200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:48168800-48173000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:48169000-48173000	Enhancers	Psoas Muscle	Psoas
43	chr12:48169000-48174200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:48169000-48177600	Weak transcription	Dnd41	blood
45	chr12:48169200-48173200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:48169200-48174000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:48169200-48177600	Weak transcription	Fetal Lung	lung
48	chr12:48169200-48178600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:48169400-48172800	Weak transcription	Fetal Brain Female	brain
50	chr12:48169400-48173000	Enhancers	Colonic Mucosa	Colon

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