Variant report

Variant	rs57193559
Chromosome Location	chr18:12313116-12313117
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12311936..12317885-chr18:12323414..12329476,8	K562	blood:
2	chr18:12311231..12313531-chr18:12374709..12376964,3	K562	blood:
3	chr18:12312656..12314988-chr18:12316506..12319573,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73415115	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv909402	chr18:12211483-12325222	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv909403	chr18:12231060-12325222	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1061545	chr18:12235999-12328405	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
10	nsv1058661	chr18:12280366-12313865	Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12309200-12316000	Weak transcription	Gastric	stomach
2	chr18:12309600-12317800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr18:12309800-12314200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr18:12309800-12315600	Weak transcription	Psoas Muscle	Psoas
5	chr18:12310000-12313600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr18:12310000-12313600	Weak transcription	Aorta	Aorta
7	chr18:12310000-12315600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:12310000-12318000	Weak transcription	Esophagus	oesophagus
9	chr18:12310000-12318200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:12310000-12324800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr18:12310000-12325800	Weak transcription	Fetal Kidney	kidney
12	chr18:12310200-12313400	Weak transcription	Pancreas	Pancrea
13	chr18:12310200-12313600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr18:12310200-12317600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr18:12310200-12319000	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr18:12310200-12320400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr18:12310200-12324800	Weak transcription	HepG2	liver
18	chr18:12310600-12314600	Strong transcription	Ovary	ovary
19	chr18:12310600-12322800	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr18:12310800-12313400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr18:12311000-12313400	Strong transcription	NH-A	brain
22	chr18:12311000-12313800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr18:12311000-12313800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr18:12311000-12314200	Weak transcription	Right Ventricle	heart
25	chr18:12311000-12315600	Weak transcription	Lung	lung
26	chr18:12311000-12316200	Genic enhancers	HMEC	breast
27	chr18:12311000-12323200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr18:12311000-12324800	Weak transcription	Spleen	Spleen
29	chr18:12311200-12313400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr18:12311200-12314000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr18:12311200-12314200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:12311200-12315400	Genic enhancers	HUVEC	blood vessel
33	chr18:12311200-12315600	Genic enhancers	HSMM	muscle
34	chr18:12311400-12313400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr18:12311600-12316400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr18:12311600-12316400	Strong transcription	Placenta	Placenta
37	chr18:12311600-12318400	Genic enhancers	Muscle Satellite Cultured Cells	--
38	chr18:12312000-12313200	ZNF genes & repeats	Liver	Liver
39	chr18:12312400-12313200	Genic enhancers	HSMMtube	muscle
40	chr18:12312400-12315400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr18:12312600-12313200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr18:12312600-12313200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr18:12312600-12313200	Strong transcription	NHDF-Ad	bronchial
44	chr18:12312600-12313400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr18:12312600-12313400	Strong transcription	Fetal Muscle Leg	muscle
46	chr18:12312600-12313400	Weak transcription	Left Ventricle	heart
47	chr18:12312600-12313400	Weak transcription	Hela-S3	cervix
48	chr18:12312600-12313400	Strong transcription	Osteobl	bone
49	chr18:12312600-12313800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr18:12312600-12313800	Strong transcription	Fetal Muscle Trunk	muscle

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