Variant report

Variant	rs11582460
Chromosome Location	chr1:224350874-224350875
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224350776..224352461-chr1:224370770..224373033,2	K562	blood:

Variant related genes	Relation type
ENSG00000143753	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10916370	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576702	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11582248	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410321	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12722938	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12736412	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12737029	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12739782	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749977	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16844823	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16856443	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2008340	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2087795	0.88[ASN][1000 genomes]
rs35177633	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35243286	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35540939	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61826374	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61826409	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61827700	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6656849	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657195	0.88[ASN][1000 genomes]
rs6687643	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71644775	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71644776	0.88[ASN][1000 genomes]
rs71644777	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9662363	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv1792939	chr1:224336636-224351023	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:224316600-224352200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:224325000-224351000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:224327600-224356400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:224339200-224363200	Weak transcription	Brain Angular Gyrus	brain
6	chr1:224345400-224351400	Weak transcription	Fetal Intestine Small	intestine
7	chr1:224345400-224352200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:224345400-224363400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:224345600-224351400	Weak transcription	Gastric	stomach
10	chr1:224345600-224352000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:224345600-224363400	Weak transcription	Ovary	ovary
12	chr1:224345800-224356600	Weak transcription	Small Intestine	intestine
13	chr1:224346000-224351400	Weak transcription	Fetal Heart	heart
14	chr1:224346000-224356600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:224346200-224356000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:224346200-224356600	Weak transcription	NHLF	lung
17	chr1:224346400-224356600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:224346400-224370000	Weak transcription	Esophagus	oesophagus
19	chr1:224346600-224356400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:224346600-224356400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:224346600-224356400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:224346600-224356600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:224346600-224356600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:224346600-224356600	Weak transcription	Aorta	Aorta
25	chr1:224346600-224356600	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:224346600-224356600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:224346600-224356600	Weak transcription	Thymus	Thymus
28	chr1:224346600-224356600	Weak transcription	HSMMtube	muscle
29	chr1:224346600-224358200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:224346600-224363200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:224346600-224363200	Weak transcription	Fetal Stomach	stomach
32	chr1:224346600-224363400	Weak transcription	Right Ventricle	heart
33	chr1:224346600-224363400	Weak transcription	Spleen	Spleen
34	chr1:224346800-224351200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:224346800-224352200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:224346800-224356400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:224346800-224356400	Weak transcription	NHEK	skin
38	chr1:224346800-224356600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:224346800-224356600	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:224346800-224356600	Weak transcription	Psoas Muscle	Psoas
41	chr1:224347000-224351400	Weak transcription	Fetal Brain Female	brain
42	chr1:224347000-224352400	Weak transcription	Brain Germinal Matrix	brain
43	chr1:224347000-224356200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr1:224347200-224356400	Weak transcription	HepG2	liver
45	chr1:224347200-224356600	Weak transcription	GM12878-XiMat	blood
46	chr1:224347400-224351800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:224347400-224356000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr1:224347600-224356000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:224347600-224356400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:224347600-224356400	Weak transcription	Muscle Satellite Cultured Cells	--

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