Variant report

Variant	rs6812441
Chromosome Location	chr4:79582689-79582690
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 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	chr4:79582164..79584750-chr4:79606523..79609231,2	MCF-7	breast:
5	chr4:79581815..79583840-chr4:79695430..79698371,3	MCF-7	breast:
6	chr4:79581359..79584183-chr4:79585994..79588670,2	K562	blood:
7	chr4:79581907..79584896-chr4:79611311..79614789,3	K562	blood:
8	chr4:79580127..79585145-chr4:79585599..79588670,4	K562	blood:
9	chr4:79577940..79580731-chr4:79581809..79584953,3	K562	blood:
10	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: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10007186	0.90[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10019240	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212636	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1107606	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1108907	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11724268	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724602	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11728013	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731482	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733032	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11736376	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11736602	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[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];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233694	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233707	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643488	0.89[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	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12711032	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]
rs13120630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13138005	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs1834518	0.86[EUR][1000 genomes]
rs1972024	0.83[EUR][1000 genomes]
rs28597797	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34325799	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4073678	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073679	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074673	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074674	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075927	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077709	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4270605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4306980	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs4353930	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4632683	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4643844	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975148	0.85[EUR][1000 genomes]
rs6533825	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.83[EUR][1000 genomes]
rs6533835	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6533842	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6533847	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6811335	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6811782	0.88[JPT][hapmap]
rs6812227	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814739	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6819484	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824014	0.83[EUR][1000 genomes]
rs6829061	0.83[EUR][1000 genomes]
rs6829198	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6834587	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6835210	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835998	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6836513	0.93[AFR][1000 genomes];1.00[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];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840592	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841654	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs6845893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846346	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6851341	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6854055	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6858740	0.89[JPT][hapmap]
rs7317	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.83[EUR][1000 genomes]
rs7657082	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7669674	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7669866	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7670506	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7680749	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7680766	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7682984	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7689154	0.91[AFR][1000 genomes];0.89[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];0.85[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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79564400-79589600	Weak transcription	Lung	lung
2	chr4:79567800-79583400	Weak transcription	Psoas Muscle	Psoas
3	chr4:79568000-79582800	Weak transcription	Right Atrium	heart
4	chr4:79572800-79582800	Weak transcription	Hela-S3	cervix
5	chr4:79573800-79583200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:79573800-79583600	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:79573800-79584200	Weak transcription	Left Ventricle	heart
8	chr4:79573800-79587000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:79574200-79583000	Weak transcription	HSMMtube	muscle
10	chr4:79574400-79582800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:79575800-79583200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:79575800-79583200	Enhancers	NHDF-Ad	bronchial
13	chr4:79577800-79583200	Enhancers	Osteobl	bone
14	chr4:79577800-79583400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:79578400-79583200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:79578600-79583200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:79578600-79583400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:79578800-79583200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:79579200-79582800	Weak transcription	Liver	Liver
20	chr4:79579400-79582800	Weak transcription	HSMM	muscle
21	chr4:79579400-79583200	Enhancers	HUVEC	blood vessel
22	chr4:79579400-79588000	Weak transcription	Spleen	Spleen
23	chr4:79579600-79585000	Weak transcription	Placenta	Placenta
24	chr4:79579800-79583400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:79580000-79583000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr4:79580000-79588000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:79580000-79588000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:79580200-79582800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:79580400-79583200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr4:79580400-79583800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr4:79580600-79582800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr4:79580600-79582800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr4:79580600-79582800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:79580600-79583000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr4:79580800-79582800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr4:79581000-79582800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:79581000-79582800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:79581000-79583400	Weak transcription	Dnd41	blood
39	chr4:79581200-79582800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:79581400-79582800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:79581600-79582800	Enhancers	A549	lung
42	chr4:79581600-79583200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:79581800-79583200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr4:79581800-79583400	Enhancers	Primary B cells from cord blood	blood
45	chr4:79581800-79584400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:79581800-79584600	Enhancers	HepG2	liver
47	chr4:79581800-79584800	Enhancers	Brain Cingulate Gyrus	brain
48	chr4:79582000-79588400	Enhancers	Fetal Intestine Large	intestine
49	chr4:79582000-79588600	Enhancers	Fetal Intestine Small	intestine
50	chr4:79582200-79584000	Enhancers	Primary T cells from cord blood	blood

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