Variant report

Variant	rs360081
Chromosome Location	chr1:226050815-226050816
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:226050738-226050914	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226047696..226051078-chr1:226051903..226054074,3	MCF-7	breast:
2	chr1:226042955..226044481-chr1:226050392..226052677,2	MCF-7	breast:
3	chr1:226049145..226051131-chr1:226061319..226063301,2	K562	blood:
4	chr1:226049743..226051440-chr1:226051504..226053269,2	K562	blood:
5	chr1:226038828..226041322-chr1:226049497..226051238,2	K562	blood:
6	chr1:226050607..226053487-chr1:226058918..226061086,2	K562	blood:

No data

Variant related genes	Relation type
TMEM63A	TF binding region
ENSG00000196187	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs184853	0.88[AMR][1000 genomes]
rs360080	0.88[AMR][1000 genomes]
rs360082	0.82[AMR][1000 genomes]
rs360085	0.88[AMR][1000 genomes]
rs360086	0.88[AMR][1000 genomes]
rs360090	0.88[AMR][1000 genomes]
rs787601	0.82[AMR][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	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv520628	chr1:226026406-226093362	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226013600-226052600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:226016000-226051000	Weak transcription	NH-A	brain
3	chr1:226026800-226061600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:226030400-226052600	Weak transcription	HSMMtube	muscle
5	chr1:226033600-226053000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:226033800-226067400	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr1:226034000-226056800	Strong transcription	Adipose Nuclei	Adipose
8	chr1:226034000-226063000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:226034200-226062800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:226036600-226064600	Weak transcription	Fetal Heart	heart
11	chr1:226036800-226058600	Weak transcription	Brain Germinal Matrix	brain
12	chr1:226036800-226066600	Weak transcription	Fetal Brain Male	brain
13	chr1:226037000-226054200	Weak transcription	Small Intestine	intestine
14	chr1:226037400-226051800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:226037600-226051800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr1:226037600-226060600	Strong transcription	Placenta	Placenta
17	chr1:226037800-226065200	Weak transcription	Right Atrium	heart
18	chr1:226038000-226052400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:226038400-226059600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:226038600-226054800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:226038800-226065800	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:226039000-226063200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:226039200-226064600	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:226039400-226053000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:226039400-226053200	Strong transcription	Thymus	Thymus
26	chr1:226039600-226051200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:226039600-226053800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:226039600-226059800	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:226039600-226062200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:226039600-226063000	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:226039800-226052000	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:226039800-226053800	Strong transcription	Fetal Stomach	stomach
33	chr1:226040000-226051000	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:226040200-226051000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:226040200-226051400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:226040400-226052000	Strong transcription	Ovary	ovary
37	chr1:226040400-226053400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:226040600-226053000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:226040600-226053400	Strong transcription	Primary T cells from cord blood	blood
40	chr1:226040800-226052200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
41	chr1:226040800-226053400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:226040800-226053400	Weak transcription	HMEC	breast
43	chr1:226041000-226053000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:226041000-226053000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:226041200-226053800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr1:226041400-226064600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:226043200-226051800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:226044200-226053400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr1:226044400-226053400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr1:226044400-226062800	Strong transcription	Duodenum Mucosa	Duodenum

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