Variant report

Variant	rs6761800
Chromosome Location	chr2:47228157-47228158
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr2:47222603-47228805	SK-N-SH	brain:	n/a	chr2:47227396-47227410 chr2:47225281-47225291 chr2:47223094-47223104 chr2:47227395-47227409

No.	Distal block	Cell Line	Cell type
1	chr2:47227819..47229844-chr2:47253559..47255515,2	K562	blood:
2	chr2:47226708..47229516-chr2:47234175..47237170,3	K562	blood:
3	chr2:47202754..47204715-chr2:47226558..47228586,2	K562	blood:
4	chr2:47226060..47229055-chr2:47402454..47404695,2	K562	blood:
5	chr2:47226109..47228656-chr2:47403165..47405238,2	K562	blood:
6	chr2:47227228..47229377-chr2:47229384..47232229,2	K562	blood:

Variant related genes	Relation type
TTC7A	TF binding region
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11899526	1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13394109	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13400490	0.84[ASN][1000 genomes]
rs13402320	0.86[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13403803	0.80[ASN][1000 genomes]
rs13413587	0.84[ASN][1000 genomes]
rs13425630	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13425971	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13428696	0.84[ASN][1000 genomes]
rs13432506	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs17036028	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs56274518	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57182920	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6544946	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs6544948	1.00[CHB][hapmap]
rs6544950	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6706303	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6708635	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.86[ASN][1000 genomes]
rs7594681	1.00[CHB][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv581750	chr2:47207665-47229953	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv525197	chr2:47210747-47297973	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv517929	chr2:47217094-47243312	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv518312	chr2:47224927-47262137	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:47213600-47256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:47214000-47262000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:47214200-47231000	Weak transcription	K562	blood
4	chr2:47214200-47235400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:47214600-47242000	Strong transcription	Thymus	Thymus
6	chr2:47214800-47228600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:47214800-47229000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:47214800-47229400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:47214800-47229600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:47214800-47230400	Strong transcription	Osteobl	bone
11	chr2:47214800-47231200	Weak transcription	HUVEC	blood vessel
12	chr2:47214800-47233400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:47214800-47237200	Strong transcription	Primary T cells from cord blood	blood
14	chr2:47214800-47239200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:47215200-47243800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:47215400-47235800	Strong transcription	Primary B cells from cord blood	blood
17	chr2:47215600-47245200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:47216400-47228800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:47216400-47241600	Strong transcription	Fetal Thymus	thymus
20	chr2:47216600-47229000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:47216600-47229400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:47216800-47228600	Strong transcription	Fetal Intestine Small	intestine
23	chr2:47217400-47228200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:47217800-47228200	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr2:47218000-47229000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:47218400-47228400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr2:47218400-47229400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:47218600-47228600	Strong transcription	NHLF	lung
29	chr2:47218800-47228600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:47219000-47228200	Strong transcription	Primary hematopoietic stem cells	blood
31	chr2:47219000-47229600	Strong transcription	Spleen	Spleen
32	chr2:47219600-47235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:47221600-47229600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:47222000-47260600	Weak transcription	Small Intestine	intestine
35	chr2:47222200-47228400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:47222600-47229800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:47223200-47229600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:47223200-47235800	Weak transcription	Fetal Kidney	kidney
39	chr2:47223400-47229000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:47223400-47229200	Weak transcription	Fetal Brain Male	brain
41	chr2:47223400-47229800	Weak transcription	Hela-S3	cervix
42	chr2:47223400-47238400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr2:47223400-47239400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:47223600-47235600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:47223600-47239400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:47223600-47246800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:47223800-47229000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:47223800-47229200	Weak transcription	Ovary	ovary
49	chr2:47223800-47229600	Weak transcription	Right Ventricle	heart
50	chr2:47223800-47234200	Weak transcription	Psoas Muscle	Psoas

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