Variant report

Variant	rs57625108
Chromosome Location	chr12:50158839-50158840
allele	A/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: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	chr12:50156443..50162111-chr12:50232191..50236705,6	K562	blood:
2	chr12:50142745..50145036-chr12:50156990..50159242,2	MCF-7	breast:
3	chr12:50145939..50150220-chr12:50153962..50160201,9	K562	blood:
4	chr12:50135904..50138542-chr12:50158281..50161269,2	MCF-7	breast:
5	chr12:50134643..50139812-chr12:50155423..50161657,9	MCF-7	breast:
6	chr12:50040835..50042733-chr12:50157264..50159608,2	K562	blood:
7	chr12:50156738..50159324-chr12:50159902..50162287,2	MCF-7	breast:
8	chr12:50155625..50159453-chr12:50163037..50166933,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139644	Chromatin interaction
ENSG00000257730	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12300376	1.00[EUR][1000 genomes]
rs12300919	1.00[EUR][1000 genomes]
rs12300962	1.00[EUR][1000 genomes]
rs12306951	1.00[EUR][1000 genomes]
rs12316175	1.00[EUR][1000 genomes]
rs1317263	1.00[EUR][1000 genomes]
rs17119738	1.00[EUR][1000 genomes]
rs17123724	1.00[EUR][1000 genomes]
rs17123729	1.00[EUR][1000 genomes]
rs17123778	1.00[EUR][1000 genomes]
rs17123787	1.00[EUR][1000 genomes]
rs57046047	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57124034	1.00[AMR][1000 genomes]
rs58039341	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61438877	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73305065	1.00[AMR][1000 genomes]
rs73305068	1.00[AMR][1000 genomes]
rs73305070	1.00[AMR][1000 genomes]
rs73305081	1.00[AMR][1000 genomes]
rs73305100	1.00[AMR][1000 genomes]
rs73305101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306844	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306846	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306864	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73306865	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306875	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306891	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309004	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309010	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309013	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50145000-50159200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:50145800-50159200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:50146000-50159000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:50146000-50159000	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:50146000-50159000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:50146200-50159000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:50146200-50159000	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:50146200-50159000	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr12:50146200-50159200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:50146200-50159200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:50146200-50159200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:50146200-50159200	Strong transcription	Placenta	Placenta
13	chr12:50146400-50159000	Strong transcription	Brain Germinal Matrix	brain
14	chr12:50146400-50159200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:50146400-50159200	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr12:50146400-50159400	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:50146400-50159400	Strong transcription	Fetal Brain Female	brain
18	chr12:50146400-50159600	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr12:50146400-50159800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr12:50146600-50159000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:50146600-50159000	Strong transcription	Colonic Mucosa	Colon
22	chr12:50146600-50159200	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:50146600-50160000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:50146600-50160800	Strong transcription	Fetal Muscle Leg	muscle
25	chr12:50146600-50160800	Strong transcription	Fetal Stomach	stomach
26	chr12:50146800-50159000	Strong transcription	Aorta	Aorta
27	chr12:50146800-50159200	Strong transcription	Gastric	stomach
28	chr12:50147000-50159000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:50147000-50159000	Strong transcription	Pancreas	Pancrea
30	chr12:50147000-50159400	Strong transcription	Fetal Intestine Large	intestine
31	chr12:50147200-50160200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr12:50147200-50161000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:50147600-50160000	Strong transcription	Fetal Intestine Small	intestine
34	chr12:50147800-50159200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:50148000-50159000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:50148200-50159000	Strong transcription	Brain Anterior Caudate	brain
37	chr12:50148200-50160000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:50148200-50160200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:50148200-50160200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:50148200-50160200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:50148200-50170000	Weak transcription	Right Atrium	heart
42	chr12:50148400-50159000	Strong transcription	HSMMtube	muscle
43	chr12:50148400-50159200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:50148400-50159600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:50148400-50160400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:50148600-50159000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:50148600-50159200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:50148600-50159200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:50148800-50159200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr12:50148800-50160200	Strong transcription	Colon Smooth Muscle	Colon

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