Variant report

Variant	rs11211278
Chromosome Location	chr1:46908225-46908226
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46908155..46911848-chr1:46987375..46989663,3	K562	blood:
2	chr1:46870674..46874174-chr1:46906955..46910035,3	K562	blood:
3	chr1:46907852..46908632-chr1:47013414..47014315,3	MCF-7	breast:
4	chr1:46907681..46909201-chr1:46942766..46943752,5	K562	blood:
5	chr1:46907653..46908944-chr1:46993306..46995074,20	K562	blood:
6	chr1:46907829..46908706-chr1:46998510..46999437,3	K562	blood:
7	chr1:46871665..46872644-chr1:46907867..46908995,6	K562	blood:
8	chr1:46908197..46910490-chr1:46990739..46993641,3	K562	blood:
9	chr1:46908155..46911848-chr1:46987375..46989961,4	K562	blood:
10	chr1:46901747..46905392-chr1:46907375..46909614,3	K562	blood:
11	chr1:46908179..46910338-chr1:46912412..46913923,2	K562	blood:
12	chr1:46907848..46908563-chr1:46988064..46988933,2	K562	blood:
13	chr1:46907713..46908466-chr1:46942834..46943730,2	MCF-7	breast:
14	chr1:46901693..46905847-chr1:46906304..46911340,7	K562	blood:
15	chr1:46907900..46908616-chr1:47010620..47011226,2	K562	blood:
16	chr1:46907167..46909679-chr1:46911926..46913949,3	K562	blood:
17	chr1:46908079..46908925-chr1:47213075..47213991,2	K562	blood:
18	chr1:46908080..46908946-chr1:47184174..47184973,2	K562	blood:
19	chr1:46872148..46872724-chr1:46907642..46908599,2	MCF-7	breast:
20	chr1:46878990..46879533-chr1:46907667..46908513,2	K562	blood:
21	chr1:46899022..46900983-chr1:46906400..46908672,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000159658	Chromatin interaction
ENSG00000117480	Chromatin interaction
ENSG00000232022	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10890396	0.97[EUR][1000 genomes]
rs11211276	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11211279	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12126376	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12407178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12409747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031249	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2281774	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2281775	0.94[EUR][1000 genomes]
rs2404584	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3795315	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660347	0.94[EUR][1000 genomes]
rs4660929	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4660935	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4660936	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72637962	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7538292	0.98[EUR][1000 genomes]
rs868650	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46904000-46908400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:46907800-46909000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:46908000-46908400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:46908000-46908400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr1:46908000-46908400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr1:46908000-46908400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:46908000-46908400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:46908000-46908400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:46908000-46908400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr1:46908000-46908400	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr1:46908000-46908400	Enhancers	Pancreas	Pancrea
12	chr1:46908000-46908400	Genic enhancers	Right Atrium	heart
13	chr1:46908000-46908400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr1:46908000-46908400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
15	chr1:46908000-46908600	Enhancers	Lung	lung
16	chr1:46908000-46908800	Enhancers	Spleen	Spleen
17	chr1:46908000-46908800	Active TSS	Hela-S3	cervix
18	chr1:46908000-46909000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:46908000-46909000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:46908000-46909000	Enhancers	Placenta	Placenta
21	chr1:46908000-46909000	Enhancers	Gastric	stomach
22	chr1:46908000-46909000	Enhancers	Right Ventricle	heart
23	chr1:46908000-46909000	Flanking Active TSS	K562	blood
24	chr1:46908000-46909000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr1:46908200-46908400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr1:46908200-46908400	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr1:46908200-46908400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
28	chr1:46908200-46908400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:46908200-46908400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:46908200-46908400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:46908200-46908400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr1:46908200-46908400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:46908200-46908400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr1:46908200-46908400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr1:46908200-46908400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:46908200-46908400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:46908200-46908400	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr1:46908200-46908400	Enhancers	Primary hematopoietic stem cells	blood
39	chr1:46908200-46908400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
40	chr1:46908200-46908400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr1:46908200-46908400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr1:46908200-46908400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:46908200-46908400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr1:46908200-46908400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr1:46908200-46908400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:46908200-46908400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:46908200-46908400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:46908200-46908400	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr1:46908200-46908400	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr1:46908200-46908400	Enhancers	Brain Inferior Temporal Lobe	brain

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