Variant report

Variant	rs11119947
Chromosome Location	chr1:212656471-212656472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212651102..212654693-chr1:212655377..212658457,3	K562	blood:
2	chr1:212644101..212647867-chr1:212656026..212658886,3	K562	blood:
3	chr1:212654477..212657612-chr1:212658521..212662499,5	K562	blood:
4	chr1:212648507..212667078-chr1:212779147..212787651,52	K562	blood:
5	chr1:212656091..212658082-chr1:212788332..212791043,2	K562	blood:
6	chr1:212645024..212669819-chr1:212778382..212791615,68	K562	blood:

Variant related genes	Relation type
ENSG00000264590	Chromatin interaction
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11119952	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11119954	1.00[CEU][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12067814	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12080266	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12087762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13374814	0.84[AMR][1000 genomes]
rs2970540	0.86[YRI][hapmap]
rs34052970	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs597459	0.86[YRI][hapmap]
rs59798077	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6660931	1.00[CEU][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6694503	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6697091	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers 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	45 gene(s)	inside rSNPs	diseases
5	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
7	nsv873159	chr1:212610755-212669475	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv873160	chr1:212610755-212675482	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv873161	chr1:212610755-212683565	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv527863	chr1:212617423-212700618	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv873163	chr1:212629935-212669475	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
14	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
15	nsv8780	chr1:212655635-212658758	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212641600-212658200	Weak transcription	Gastric	stomach
2	chr1:212650600-212667800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:212650800-212661600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:212651000-212658200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:212651400-212658000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:212651600-212656800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:212651600-212659200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:212653200-212656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:212653200-212658400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:212653800-212659000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:212653800-212659200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:212654000-212658800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:212655000-212665800	Enhancers	Placenta	Placenta
14	chr1:212655200-212656600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:212655200-212656600	Flanking Active TSS	A549	lung
16	chr1:212655200-212656600	Enhancers	NHLF	lung
17	chr1:212655200-212656800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:212655200-212656800	Enhancers	Fetal Intestine Small	intestine
19	chr1:212655200-212656800	Enhancers	NHDF-Ad	bronchial
20	chr1:212655200-212657000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:212655200-212658200	Enhancers	Hela-S3	cervix
22	chr1:212655200-212660200	Enhancers	Fetal Intestine Large	intestine
23	chr1:212655200-212662800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:212655400-212656800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:212655400-212656800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:212655400-212656800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:212655400-212656800	Enhancers	Duodenum Mucosa	Duodenum
28	chr1:212655400-212660000	Enhancers	HSMM	muscle
29	chr1:212655400-212660200	Enhancers	NH-A	brain
30	chr1:212655600-212658600	Weak transcription	Esophagus	oesophagus
31	chr1:212655600-212662200	Weak transcription	Right Atrium	heart
32	chr1:212655800-212656800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:212655800-212657000	Enhancers	HSMMtube	muscle
34	chr1:212655800-212657800	Weak transcription	HUVEC	blood vessel
35	chr1:212656000-212658200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:212656200-212656600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr1:212656200-212656800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:212656200-212656800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:212656200-212657200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:212656200-212657200	Enhancers	Spleen	Spleen
41	chr1:212656400-212656600	Enhancers	Osteobl	bone
42	chr1:212656400-212656800	Enhancers	Colonic Mucosa	Colon
43	chr1:212656400-212658000	Weak transcription	Stomach Mucosa	stomach
44	chr1:212656400-212659000	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:212656400-212659000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:212656400-212661600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:212656400-212661600	Weak transcription	Aorta	Aorta
48	chr1:212656400-212662000	Weak transcription	Left Ventricle	heart

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