Variant report

Variant	rs12711032
Chromosome Location	chr4:79583702-79583703
allele	A/G
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:79581022..79584954-chr4:79599701..79603406,3	K562	blood:
2	chr4:79581907..79584896-chr4:79611311..79615634,4	K562	blood:
3	chr4:79577188..79580624-chr4:79581809..79584972,3	K562	blood:
4	chr4:79582822..79584593-chr4:79591122..79593119,2	K562	blood:
5	chr4:79582164..79584750-chr4:79606523..79609231,2	MCF-7	breast:
6	chr4:79581815..79583840-chr4:79695430..79698371,3	MCF-7	breast:
7	chr4:79583593..79586061-chr4:79586877..79589613,2	MCF-7	breast:
8	chr4:79581359..79584183-chr4:79585994..79588670,2	K562	blood:
9	chr4:79581907..79584896-chr4:79611311..79614789,3	K562	blood:
10	chr4:79583221..79584780-chr4:79699632..79701353,2	MCF-7	breast:
11	chr4:79580127..79585145-chr4:79585599..79588670,4	K562	blood:
12	chr4:79573609..79576927-chr4:79583175..79586831,3	MCF-7	breast:
13	chr4:79577940..79580731-chr4:79581809..79584953,3	K562	blood:
14	chr4:79582169..79584322-chr4:79590823..79592622,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138756	Chromatin interaction
ENSG00000260278	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10001246	0.82[CEU][hapmap]
rs10007186	0.91[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10019240	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212636	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1107606	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1108907	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11724268	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724602	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11728013	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731482	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733032	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11733269	0.81[CEU][hapmap]
rs11736376	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11736602	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11942573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233694	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233707	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643488	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12646646	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12650411	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13120630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13138005	0.90[CEU][hapmap];0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs1834518	0.86[EUR][1000 genomes]
rs1972024	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28597797	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34325799	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4073678	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073679	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074673	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074674	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075927	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077709	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4270605	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4306980	0.90[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4353930	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4632683	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4643844	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975148	0.85[EUR][1000 genomes]
rs6533821	0.81[CEU][hapmap]
rs6533825	0.91[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6533835	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6533842	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6533847	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6811335	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6811782	0.88[JPT][hapmap]
rs6812227	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814739	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6819484	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824014	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6829061	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6829198	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6834587	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6835210	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835998	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6836513	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840592	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841654	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6845893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846346	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6851341	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6854055	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6858740	0.89[JPT][hapmap]
rs7317	0.90[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7657082	0.90[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7669674	0.86[AMR][1000 genomes]
rs7669866	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7670506	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7680749	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7680766	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7682984	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7689154	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9998136	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS 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	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79564400-79589600	Weak transcription	Lung	lung
2	chr4:79573800-79584200	Weak transcription	Left Ventricle	heart
3	chr4:79573800-79587000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:79579400-79588000	Weak transcription	Spleen	Spleen
5	chr4:79579600-79585000	Weak transcription	Placenta	Placenta
6	chr4:79580000-79588000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:79580000-79588000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:79580400-79583800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr4:79581800-79584400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:79581800-79584600	Enhancers	HepG2	liver
11	chr4:79581800-79584800	Enhancers	Brain Cingulate Gyrus	brain
12	chr4:79582000-79588400	Enhancers	Fetal Intestine Large	intestine
13	chr4:79582000-79588600	Enhancers	Fetal Intestine Small	intestine
14	chr4:79582200-79584000	Enhancers	Primary T cells from cord blood	blood
15	chr4:79582400-79583800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:79582400-79583800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:79582400-79583800	Enhancers	NHLF	lung
18	chr4:79582400-79584000	Enhancers	Stomach Mucosa	stomach
19	chr4:79582400-79584200	Enhancers	Fetal Muscle Leg	muscle
20	chr4:79582400-79584200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr4:79582400-79584400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr4:79582400-79584600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr4:79582400-79585200	Enhancers	Primary B cells from peripheral blood	blood
24	chr4:79582400-79586600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:79582600-79583800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr4:79582600-79583800	Enhancers	NH-A	brain
27	chr4:79582600-79584400	Enhancers	Adipose Nuclei	Adipose
28	chr4:79582800-79583800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:79582800-79583800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr4:79582800-79583800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr4:79582800-79583800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr4:79582800-79583800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr4:79582800-79583800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr4:79582800-79583800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr4:79582800-79583800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:79582800-79583800	Enhancers	Liver	Liver
37	chr4:79582800-79584000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr4:79582800-79584200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr4:79582800-79584200	Enhancers	Primary hematopoietic stem cells	blood
40	chr4:79582800-79584200	Enhancers	Right Atrium	heart
41	chr4:79582800-79584200	Flanking Active TSS	GM12878-XiMat	blood
42	chr4:79582800-79586000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:79582800-79586800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:79583000-79583800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:79583000-79583800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr4:79583000-79583800	Enhancers	HSMMtube	muscle
47	chr4:79583000-79584000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:79583000-79584200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr4:79583000-79587000	Enhancers	K562	blood
50	chr4:79583200-79583800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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