Variant report

Variant	rs58137104
Chromosome Location	chr1:149983734-149983735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:149983696-149983903	K562	blood:	n/a	chr1:149983725-149983742
2	HCFC1	chr1:149980771-149983932	Hela-S3	cervix:	n/a	n/a
3	JUN	chr1:149981261-149983987	K562	blood:	n/a	chr1:149981743-149981755

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149853005..149861438-chr1:149978765..149991065,34	MCF-7	breast:
2	chr1:149898259..149901942-chr1:149980885..149984493,5	MCF-7	breast:
3	chr1:149980215..149984264-chr1:150036474..150041542,10	K562	blood:
4	chr1:149855536..149863300-chr1:149977462..149985642,29	K562	blood:
5	chr1:149977821..149984701-chr1:150037094..150041280,13	MCF-7	breast:
6	chr1:149854540..149863300-chr1:149979575..149985253,19	K562	blood:
7	chr1:149857288..149861878-chr1:149980292..149985449,12	MCF-7	breast:
8	chr1:149896924..149901430-chr1:149978916..149983998,7	MCF-7	breast:
9	chr1:149908458..149914088-chr1:149980717..149984285,8	MCF-7	breast:
10	chr1:149982260..149984112-chr1:150253669..150255654,2	MCF-7	breast:
11	chr1:149980534..149984301-chr1:150205783..150209955,5	K562	blood:

No data

Variant related genes	Relation type
OTUD7B	TF binding region
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000014914	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000159208	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000143368	Chromatin interaction
ENSG00000222222	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1556934	0.83[AMR][1000 genomes]
rs16832989	0.83[AMR][1000 genomes]
rs16832993	0.83[AMR][1000 genomes]
rs16833048	0.83[AMR][1000 genomes]
rs16836857	0.83[AMR][1000 genomes]
rs16837054	0.83[AMR][1000 genomes]
rs16837367	0.83[AMR][1000 genomes]
rs16837593	0.83[AMR][1000 genomes]
rs16838449	0.83[AMR][1000 genomes]
rs16838646	0.83[AMR][1000 genomes]
rs16841141	0.83[AMR][1000 genomes]
rs16841623	0.83[AMR][1000 genomes]
rs16841697	0.83[AMR][1000 genomes]
rs56929499	0.83[AMR][1000 genomes]
rs57020352	0.83[AMR][1000 genomes]
rs57182882	0.83[AMR][1000 genomes]
rs57513077	0.83[AMR][1000 genomes]
rs58100431	0.83[AMR][1000 genomes]
rs58688107	0.83[AMR][1000 genomes]
rs58777569	0.83[AMR][1000 genomes]
rs59462540	0.83[AMR][1000 genomes]
rs59709800	0.83[AMR][1000 genomes]
rs59934949	0.83[AMR][1000 genomes]
rs60631776	0.83[AMR][1000 genomes]
rs6664973	0.83[AMR][1000 genomes]
rs6680574	0.83[AMR][1000 genomes]
rs6694482	0.83[AMR][1000 genomes]
rs6700399	0.83[AMR][1000 genomes]
rs73004328	0.83[AMR][1000 genomes]
rs73004398	0.83[AMR][1000 genomes]
rs73004400	0.83[AMR][1000 genomes]
rs73006303	0.83[AMR][1000 genomes]
rs73006306	0.83[AMR][1000 genomes]
rs73006313	0.83[AMR][1000 genomes]
rs73006316	0.83[AMR][1000 genomes]
rs73006318	0.83[AMR][1000 genomes]
rs73006327	0.83[AMR][1000 genomes]
rs73006333	0.83[AMR][1000 genomes]
rs73008163	0.83[AMR][1000 genomes]
rs73008167	0.83[AMR][1000 genomes]
rs73008171	0.83[AMR][1000 genomes]
rs73008191	0.83[AMR][1000 genomes]
rs73008199	0.83[AMR][1000 genomes]
rs73008201	0.83[AMR][1000 genomes]
rs73010104	0.83[AMR][1000 genomes]
rs73010113	0.83[AMR][1000 genomes]
rs73010183	0.83[AMR][1000 genomes]
rs73010186	0.83[AMR][1000 genomes]
rs73010189	0.83[AMR][1000 genomes]
rs73011904	0.83[AMR][1000 genomes]
rs73011906	0.83[AMR][1000 genomes]
rs73011909	0.83[AMR][1000 genomes]
rs73011910	0.83[AMR][1000 genomes]
rs73011912	0.83[AMR][1000 genomes]
rs73011913	0.83[AMR][1000 genomes]
rs73011915	0.83[AMR][1000 genomes]
rs73016112	0.83[AMR][1000 genomes]
rs7523560	0.83[AMR][1000 genomes]
rs7543861	0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149982800-149994400	Weak transcription	Gastric	stomach
2	chr1:149983000-149985600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:149983000-149992800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:149983200-149984200	Weak transcription	Colonic Mucosa	Colon
5	chr1:149983200-149984600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:149983200-149984800	Enhancers	Brain Substantia Nigra	brain
7	chr1:149983200-149984800	Enhancers	Osteobl	bone
8	chr1:149983200-149985000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:149983200-149985000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:149983200-149985000	Enhancers	Hela-S3	cervix
11	chr1:149983200-149985200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:149983200-149985200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr1:149983200-149985200	Enhancers	Stomach Mucosa	stomach
14	chr1:149983200-149985400	Enhancers	HSMM	muscle
15	chr1:149983200-149985600	Enhancers	Fetal Intestine Small	intestine
16	chr1:149983200-149987400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:149983200-149987600	Weak transcription	Right Atrium	heart
18	chr1:149983400-149983800	Weak transcription	Brain Anterior Caudate	brain
19	chr1:149983400-149983800	Weak transcription	HSMMtube	muscle
20	chr1:149983400-149984000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:149983400-149984400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:149983400-149984600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:149983400-149984600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:149983400-149984600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:149983400-149984600	Weak transcription	Fetal Intestine Large	intestine
26	chr1:149983400-149984800	Weak transcription	Adipose Nuclei	Adipose
27	chr1:149983400-149984800	Enhancers	Brain Hippocampus Middle	brain
28	chr1:149983400-149984800	Weak transcription	GM12878-XiMat	blood
29	chr1:149983400-149985000	Enhancers	K562	blood
30	chr1:149983400-149985000	Weak transcription	NH-A	brain
31	chr1:149983400-149985200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:149983400-149985400	Enhancers	Brain Angular Gyrus	brain
33	chr1:149983400-149985400	Enhancers	Brain Cingulate Gyrus	brain
34	chr1:149983400-149985400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr1:149983400-149985400	Enhancers	HepG2	liver
36	chr1:149983400-149987600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:149983400-149988800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:149983400-149988800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:149983400-149989000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:149983400-149989400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:149983400-149989400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:149983600-149984000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:149983600-149984400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:149983600-149984800	Weak transcription	Liver	Liver
45	chr1:149983600-149984800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:149983600-149985000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:149983600-149987600	Weak transcription	A549	lung

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