Variant report

Variant	rs57112568
Chromosome Location	chr15:58685922-58685923
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58622487..58624173-chr15:58685578..58687624,2	K562	blood:
2	chr15:58624557..58626281-chr15:58684257..58686056,2	K562	blood:
3	chr15:58685079..58687364-chr15:58694601..58697474,2	K562	blood:
4	chr15:58685379..58687323-chr15:58690590..58693312,2	K562	blood:
5	chr15:58684651..58686772-chr15:58697716..58700224,2	K562	blood:
6	chr15:58685871..58690225-chr15:58716411..58720519,4	K562	blood:

Variant related genes	Relation type
ENSG00000128918	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13329321	1.00[EUR][1000 genomes]
rs13329416	1.00[EUR][1000 genomes]
rs16940111	1.00[EUR][1000 genomes]
rs16940115	1.00[EUR][1000 genomes]
rs28405107	1.00[EUR][1000 genomes]
rs28449499	1.00[EUR][1000 genomes]
rs28457584	1.00[EUR][1000 genomes]
rs28488446	1.00[EUR][1000 genomes]
rs28621988	1.00[EUR][1000 genomes]
rs28668323	1.00[EUR][1000 genomes]
rs28706087	1.00[EUR][1000 genomes]
rs28849098	1.00[EUR][1000 genomes]
rs28879975	1.00[EUR][1000 genomes]
rs57213406	1.00[EUR][1000 genomes]
rs58293663	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73418661	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73420514	0.81[AFR][1000 genomes]
rs9920110	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv904266	chr15:58580921-58689187	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58679400-58690600	Enhancers	Placenta Amnion	Placenta Amnion
2	chr15:58680000-58688000	Weak transcription	NHLF	lung
3	chr15:58681000-58686000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:58681000-58686000	Enhancers	Placenta	Placenta
5	chr15:58681000-58686200	Enhancers	Liver	Liver
6	chr15:58681600-58693400	Weak transcription	Pancreas	Pancrea
7	chr15:58681800-58686200	Enhancers	Fetal Kidney	kidney
8	chr15:58682000-58687800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:58682400-58687000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:58682800-58687400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr15:58682800-58687400	Weak transcription	Osteobl	bone
12	chr15:58682800-58687600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:58682800-58687600	Weak transcription	HSMM	muscle
14	chr15:58683200-58687000	Weak transcription	NHDF-Ad	bronchial
15	chr15:58683600-58686200	Enhancers	HSMMtube	muscle
16	chr15:58683600-58693600	Weak transcription	Spleen	Spleen
17	chr15:58683800-58686000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr15:58684200-58686000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:58684200-58686000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr15:58684200-58686400	Enhancers	Fetal Intestine Large	intestine
21	chr15:58684200-58686400	Enhancers	Fetal Intestine Small	intestine
22	chr15:58684400-58686000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:58684400-58686000	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr15:58684400-58686200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:58684800-58686200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr15:58684800-58686400	Enhancers	Fetal Heart	heart
27	chr15:58685000-58686200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:58685200-58686000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:58685400-58689600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr15:58685600-58686000	Weak transcription	Brain Anterior Caudate	brain
31	chr15:58685600-58686800	Weak transcription	Esophagus	oesophagus
32	chr15:58685600-58687000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:58685600-58687200	Weak transcription	Brain Angular Gyrus	brain
34	chr15:58685600-58687400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:58685600-58687600	Weak transcription	HMEC	breast
36	chr15:58685600-58687800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:58685600-58689800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:58685800-58687000	Weak transcription	K562	blood
39	chr15:58685800-58687200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr15:58685800-58687800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:58685800-58690200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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