Variant report

Variant	rs6747479
Chromosome Location	chr2:233568875-233568876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233560777..233562416-chr2:233568775..233570422,2	K562	blood:
2	chr2:233560918..233562654-chr2:233567165..233569049,2	K562	blood:

Variant related genes	Relation type
ENSG00000204120	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10176930	0.81[AFR][1000 genomes]
rs10190211	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10207739	1.00[JPT][hapmap]
rs10209575	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10933407	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10933408	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11679581	0.90[EUR][1000 genomes]
rs11684636	1.00[JPT][hapmap]
rs11685169	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11687379	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11688622	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11688691	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11694434	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11695762	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11904619	0.95[CEU][hapmap]
rs12052869	0.94[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12328140	0.94[CEU][hapmap]
rs12694915	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12694916	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13035517	0.90[CEU][hapmap]
rs13383733	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs13386650	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13387762	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs13396293	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13401578	0.83[AFR][1000 genomes]
rs13412034	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13412513	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13424896	0.89[CEU][hapmap]
rs13425525	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13425918	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs13429857	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1446307	0.95[CEU][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2289914	0.95[CEU][hapmap];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2289915	0.90[CEU][hapmap];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2292724	0.89[CEU][hapmap]
rs2292725	0.89[CEU][hapmap]
rs2293782	0.95[CEU][hapmap];0.89[CHB][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2305139	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34063802	0.94[CEU][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34832091	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35778045	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35785837	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35928329	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41266951	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56054779	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62193305	0.90[EUR][1000 genomes]
rs73005582	0.90[EUR][1000 genomes]
rs7557131	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7564554	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9288675	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9288676	0.93[CEU][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9808146	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9973586	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233563200-233569000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:233563200-233572400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:233563400-233569000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:233563800-233582600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:233564000-233570600	Weak transcription	Fetal Kidney	kidney
6	chr2:233564000-233570800	Weak transcription	HSMMtube	muscle
7	chr2:233564000-233579600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:233564000-233589000	Weak transcription	NH-A	brain
9	chr2:233564200-233570000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:233564200-233570400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:233564200-233571000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:233564200-233596400	Weak transcription	NHLF	lung
13	chr2:233564200-233613000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:233564800-233569400	Weak transcription	Osteobl	bone
15	chr2:233564800-233592800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:233565000-233612200	Weak transcription	Fetal Brain Male	brain
17	chr2:233565200-233573800	Weak transcription	NHEK	skin
18	chr2:233565200-233589800	Weak transcription	HMEC	breast
19	chr2:233565200-233602000	Weak transcription	HUVEC	blood vessel
20	chr2:233565200-233606400	Weak transcription	Stomach Mucosa	stomach
21	chr2:233565400-233580200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:233565400-233589800	Weak transcription	Hela-S3	cervix
23	chr2:233565400-233590000	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:233566000-233570400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:233566000-233576000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:233566000-233576000	Strong transcription	Fetal Stomach	stomach
28	chr2:233566000-233577000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:233566000-233578400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:233566000-233584600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:233566200-233574200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:233566200-233576000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:233566400-233569000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:233566400-233572000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:233566600-233570600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:233566800-233571000	Weak transcription	Ovary	ovary
37	chr2:233566800-233571000	Weak transcription	Right Ventricle	heart
38	chr2:233566800-233612800	Weak transcription	Small Intestine	intestine
39	chr2:233567000-233569200	Strong transcription	Primary B cells from cord blood	blood
40	chr2:233567200-233569200	Strong transcription	K562	blood
41	chr2:233567200-233569600	Strong transcription	HSMM	muscle
42	chr2:233567200-233569800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:233567200-233574200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:233567200-233574200	Strong transcription	Fetal Thymus	thymus
45	chr2:233567400-233569000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:233567400-233572200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:233567400-233576800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:233567600-233569200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
49	chr2:233567600-233572200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr2:233567600-233572400	Strong transcription	GM12878-XiMat	blood

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