Variant report

Variant	rs12308735
Chromosome Location	chr12:50669149-50669150
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50668052..50669567-chr12:50674586..50677447,2	MCF-7	breast:
2	chr12:50667436..50669686-chr12:50677547..50679539,3	K562	blood:
3	chr12:50646516..50648440-chr12:50668582..50670960,3	K562	blood:
4	chr12:50667614..50669349-chr12:50676194..50678144,2	MCF-7	breast:
5	chr12:50653700..50656235-chr12:50667803..50669605,2	K562	blood:
6	chr12:50666860..50670693-chr12:50671075..50676885,6	K562	blood:
7	chr12:50594314..50595947-chr12:50667482..50670246,2	MCF-7	breast:
8	chr12:50665714..50669767-chr12:50671688..50676181,4	MCF-7	breast:
9	chr12:50661921..50664462-chr12:50666966..50669585,2	K562	blood:
10	chr12:50662962..50664861-chr12:50666966..50669357,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203433	Chromatin interaction
ENSG00000050405	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10083076	1.00[AMR][1000 genomes]
rs11169403	1.00[AMR][1000 genomes]
rs12297832	1.00[AMR][1000 genomes]
rs12298057	1.00[AMR][1000 genomes]
rs12302910	1.00[AMR][1000 genomes]
rs12308132	1.00[AMR][1000 genomes]
rs12312142	1.00[AMR][1000 genomes]
rs12312218	1.00[AMR][1000 genomes]
rs12314391	1.00[AMR][1000 genomes]
rs12316153	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317780	1.00[AMR][1000 genomes]
rs12318245	1.00[AMR][1000 genomes]
rs7298085	1.00[AMR][1000 genomes]
rs7305783	1.00[AMR][1000 genomes]
rs9651998	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50649200-50671000	Weak transcription	Small Intestine	intestine
2	chr12:50652200-50675800	Weak transcription	Fetal Stomach	stomach
3	chr12:50652400-50671200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:50652400-50676200	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:50652400-50676400	Weak transcription	HSMM	muscle
6	chr12:50661600-50672400	Genic enhancers	Fetal Intestine Small	intestine
7	chr12:50662200-50676400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:50665000-50676400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:50665600-50675800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:50665600-50676200	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:50665800-50670000	Enhancers	HepG2	liver
12	chr12:50665800-50673400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:50665800-50676000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:50665800-50676400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:50666000-50669200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:50666000-50669400	Weak transcription	HMEC	breast
17	chr12:50666000-50671000	Weak transcription	NHDF-Ad	bronchial
18	chr12:50666000-50671200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:50666000-50674800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:50666000-50675200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:50666000-50676400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:50666000-50676400	Weak transcription	Ovary	ovary
23	chr12:50666200-50669400	Weak transcription	K562	blood
24	chr12:50666200-50670800	Weak transcription	Osteobl	bone
25	chr12:50666200-50671000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:50666200-50671200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:50666200-50675600	Weak transcription	Fetal Lung	lung
28	chr12:50666200-50676400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:50666200-50676400	Weak transcription	Liver	Liver
30	chr12:50666400-50669400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:50666400-50669400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:50666400-50676400	Weak transcription	Right Ventricle	heart
33	chr12:50666600-50669600	Weak transcription	Adipose Nuclei	Adipose
34	chr12:50667600-50671600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr12:50667600-50671600	Genic enhancers	Fetal Intestine Large	intestine
36	chr12:50667600-50672400	Enhancers	Hela-S3	cervix
37	chr12:50667600-50674600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:50667800-50669800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:50668000-50669600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:50668200-50669400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:50668200-50669400	Weak transcription	Right Atrium	heart
42	chr12:50668200-50671000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:50668200-50676200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr12:50668400-50670400	Weak transcription	Lung	lung
45	chr12:50668400-50671600	Enhancers	Colonic Mucosa	Colon
46	chr12:50668600-50669400	Weak transcription	Pancreas	Pancrea
47	chr12:50668600-50669600	Weak transcription	Psoas Muscle	Psoas
48	chr12:50668600-50670200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:50668600-50671000	Weak transcription	Gastric	stomach
50	chr12:50668600-50671200	Weak transcription	A549	lung

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