Variant report

Variant	rs7505021
Chromosome Location	chr18:12278837-12278838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12274281..12279698-chr18:12305807..12311128,5	K562	blood:
2	chr18:12276259..12278951-chr18:12284988..12286490,2	K562	blood:
3	chr18:12271533..12274633-chr18:12277025..12281374,4	K562	blood:
4	chr18:12278124..12280961-chr18:12313263..12315293,2	K562	blood:
5	chr18:12277461..12279428-chr18:12655672..12658036,2	K562	blood:
6	chr18:11850419..11853228-chr18:12278563..12280532,2	K562	blood:

Variant related genes	Relation type
ENSG00000134278	Chromatin interaction
ENSG00000176014	Chromatin interaction
ENSG00000267165	Chromatin interaction
ENSG00000255112	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12962340	0.82[EUR][1000 genomes]
rs12966610	0.85[EUR][1000 genomes];0.81[ASN][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	nsv909401	chr18:12211483-12312075	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv870342	chr18:12270808-12295798	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12277000-12281000	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr18:12277400-12279400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr18:12277400-12279800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr18:12278000-12279000	Flanking Active TSS	Colon Smooth Muscle	Colon
5	chr18:12278000-12279200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr18:12278000-12279800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:12278000-12280200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:12278200-12279000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:12278200-12279000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr18:12278200-12279000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr18:12278200-12279000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr18:12278200-12279000	Flanking Active TSS	Fetal Heart	heart
13	chr18:12278200-12279000	Flanking Bivalent TSS/Enh	HepG2	liver
14	chr18:12278200-12279200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr18:12278200-12279200	Flanking Active TSS	Rectal Smooth Muscle	rectum
16	chr18:12278200-12279600	Enhancers	Fetal Thymus	thymus
17	chr18:12278200-12279600	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr18:12278200-12279800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr18:12278200-12279800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr18:12278200-12280000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr18:12278200-12280000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:12278200-12280000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr18:12278200-12280000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr18:12278200-12280000	Flanking Active TSS	Fetal Muscle Trunk	muscle
25	chr18:12278200-12280000	Enhancers	Stomach Mucosa	stomach
26	chr18:12278200-12280000	Flanking Active TSS	Osteobl	bone
27	chr18:12278200-12280200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr18:12278200-12280400	Enhancers	Lung	lung
29	chr18:12278200-12280400	Flanking Active TSS	HSMM	muscle
30	chr18:12278200-12284200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr18:12278400-12279000	Enhancers	Primary hematopoietic stem cells	blood
32	chr18:12278400-12279000	Enhancers	Brain Substantia Nigra	brain
33	chr18:12278400-12279000	Enhancers	Fetal Kidney	kidney
34	chr18:12278400-12279200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr18:12278400-12279200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr18:12278400-12279200	Enhancers	Brain Germinal Matrix	brain
37	chr18:12278400-12279200	Flanking Active TSS	NHDF-Ad	bronchial
38	chr18:12278400-12279400	Enhancers	Fetal Brain Female	brain
39	chr18:12278400-12279600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:12278400-12279600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr18:12278400-12279800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr18:12278400-12279800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr18:12278400-12279800	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr18:12278400-12279800	Flanking Active TSS	Fetal Stomach	stomach
45	chr18:12278400-12279800	Enhancers	Hela-S3	cervix
46	chr18:12278400-12280000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr18:12278400-12280000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:12278400-12280000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr18:12278400-12280000	Active TSS	Colonic Mucosa	Colon
50	chr18:12278400-12280000	Flanking Active TSS	HUVEC	blood vessel

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