Variant report

Variant	rs11736602
Chromosome Location	chr4:79572289-79572290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr4:79571734-79572298	K562	blood:	n/a	n/a
2	JUN	chr4:79570586-79572347	K562	blood:	n/a	n/a
3	TEAD4	chr4:79571061-79572361	K562	blood:	n/a	n/a
4	GATA1	chr4:79570957-79572456	PBDE	blood:	n/a	n/a
5	CEBPD	chr4:79571269-79572307	K562	blood:	n/a	n/a
6	NR2F2	chr4:79571668-79572304	K562	blood:	n/a	n/a
7	ARID3A	chr4:79570959-79572326	K562	blood:	n/a	n/a
8	CEBPD	chr4:79571748-79572290	K562	blood:	n/a	n/a
9	IRF1	chr4:79571868-79572589	K562	blood:	n/a	n/a
10	GATA1	chr4:79570315-79573565	K562	blood:	n/a	n/a
11	TEAD4	chr4:79571095-79572293	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:79568346..79573757-chr4:79695931..79699478,7	MCF-7	breast:
2	chr4:79570295..79572982-chr4:79695014..79699413,6	MCF-7	breast:
3	chr4:79571552..79573969-chr4:79585909..79589158,3	K562	blood:
4	chr4:79571366..79573433-chr4:79699664..79702069,2	K562	blood:
5	chr4:79571062..79573548-chr4:79735105..79737173,2	K562	blood:
6	chr4:79563449..79567560-chr4:79569303..79574487,6	K562	blood:
7	chr4:79571726..79575122-chr4:79694078..79695730,3	K562	blood:
8	chr4:79571438..79573249-chr4:79577975..79580336,2	MCF-7	breast:
9	chr4:79533816..79536159-chr4:79571823..79573589,2	K562	blood:

No data

Variant related genes	Relation type
HIGD1AP13	TF binding region
ENSG00000251442	Chromatin interaction
ENSG00000260278	Chromatin interaction
ENSG00000138756	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10001246	0.90[CEU][hapmap]
rs10007186	0.81[CEU][hapmap];0.95[EUR][1000 genomes]
rs10019240	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212636	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1107606	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1108907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11724268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724602	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11728013	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731482	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733032	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11733269	0.90[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap]
rs11736376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11942573	0.88[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233694	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]
rs12233707	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643488	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12646646	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12650411	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12711032	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]
rs13120630	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13138005	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs1834518	0.81[EUR][1000 genomes]
rs1972024	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28597797	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34325799	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4073678	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073679	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074673	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074674	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075927	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077709	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4270605	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4306980	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4353930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4632683	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4643844	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975148	0.89[EUR][1000 genomes]
rs6533821	0.90[CEU][hapmap];0.88[GIH][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap]
rs6533825	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6533835	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6533842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6533845	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6533847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs6811335	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6811782	0.88[JPT][hapmap]
rs6812227	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812441	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]
rs6814739	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6819484	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824014	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6829061	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6829198	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6834587	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6835210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835998	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6836513	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838443	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841654	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6845893	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846346	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6851341	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6854055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6858740	0.88[JPT][hapmap]
rs7317	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7657082	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7669674	0.86[AMR][1000 genomes]
rs7669866	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7670506	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7680749	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7680766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7682984	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7689154	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7697461	0.80[EUR][1000 genomes]
rs9998136	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11736602	LOC643424	cis	multi-tissue	Pritchard
rs11736602	ART3	cis	parietal	SCAN
rs11736602	PRDM8	cis	parietal	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79551400-79578200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:79564400-79577200	Weak transcription	Fetal Thymus	thymus
3	chr4:79564400-79589600	Weak transcription	Lung	lung
4	chr4:79566000-79573200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr4:79567600-79573600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:79567800-79573600	Weak transcription	Brain Angular Gyrus	brain
7	chr4:79567800-79574000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:79567800-79578200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:79567800-79580400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:79567800-79583400	Weak transcription	Psoas Muscle	Psoas
11	chr4:79568000-79572800	Weak transcription	Fetal Lung	lung
12	chr4:79568000-79573600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:79568000-79573600	Weak transcription	Left Ventricle	heart
14	chr4:79568000-79573600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:79568000-79573800	Weak transcription	Brain Substantia Nigra	brain
16	chr4:79568000-79575600	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:79568000-79578000	Enhancers	HUVEC	blood vessel
18	chr4:79568000-79582800	Weak transcription	Right Atrium	heart
19	chr4:79568200-79573400	Weak transcription	Fetal Stomach	stomach
20	chr4:79569000-79573000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:79569200-79572600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr4:79569400-79572800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr4:79569600-79575400	Enhancers	NHDF-Ad	bronchial
24	chr4:79570000-79573000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:79570200-79573000	Weak transcription	Brain Anterior Caudate	brain
26	chr4:79570200-79573000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:79570400-79573800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr4:79570400-79574800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr4:79570600-79573200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr4:79570600-79574200	Enhancers	NHLF	lung
31	chr4:79570800-79572800	Enhancers	Hela-S3	cervix
32	chr4:79570800-79573000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:79570800-79574200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:79571000-79573800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr4:79571000-79573800	Enhancers	HSMM	muscle
36	chr4:79571000-79576400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:79571000-79576600	Enhancers	Osteobl	bone
38	chr4:79571200-79572800	Enhancers	Primary B cells from cord blood	blood
39	chr4:79571200-79574200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr4:79571400-79572400	Enhancers	Fetal Heart	heart
41	chr4:79571800-79572400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr4:79571800-79572400	Enhancers	Brain Hippocampus Middle	brain
43	chr4:79571800-79574800	Weak transcription	Placenta	Placenta
44	chr4:79571800-79574800	Weak transcription	NH-A	brain
45	chr4:79571800-79575400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:79571800-79578200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:79572000-79572800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:79572000-79573000	Weak transcription	Thymus	Thymus
49	chr4:79572000-79573600	Weak transcription	Adipose Nuclei	Adipose
50	chr4:79572000-79573800	Enhancers	NHEK	skin

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