Variant report

Variant	rs6531841
Chromosome Location	chr4:76608092-76608093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:76597748..76600318-chr4:76605749..76608263,3	K562	blood:
2	chr4:76596307..76600318-chr4:76606592..76610261,3	K562	blood:
3	chr4:76600960..76603310-chr4:76607519..76610199,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138757	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10009902	0.81[EUR][1000 genomes]
rs10014281	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10025315	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10028884	0.84[EUR][1000 genomes]
rs10029110	0.83[EUR][1000 genomes]
rs11097069	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11097070	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11729258	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11736474	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11737705	0.84[EUR][1000 genomes]
rs13116639	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13118426	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13133699	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13137468	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13138717	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13140908	0.82[EUR][1000 genomes]
rs1464070	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1464071	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1546539	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548175	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553984	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1553986	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1828629	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1967495	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1967496	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs226416	0.84[EUR][1000 genomes]
rs2280095	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs324685	0.80[EUR][1000 genomes]
rs324689	0.82[EUR][1000 genomes]
rs324692	0.82[EUR][1000 genomes]
rs324695	0.82[EUR][1000 genomes]
rs324707	0.84[EUR][1000 genomes]
rs324708	0.84[EUR][1000 genomes]
rs324711	0.84[EUR][1000 genomes]
rs324715	0.84[EUR][1000 genomes]
rs324716	0.84[EUR][1000 genomes]
rs324717	0.84[EUR][1000 genomes]
rs324718	0.84[EUR][1000 genomes]
rs324721	0.84[EUR][1000 genomes]
rs324724	0.82[EUR][1000 genomes]
rs324725	0.82[EUR][1000 genomes]
rs324737	0.82[EUR][1000 genomes]
rs3796473	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3796485	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3796488	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3821977	0.81[ASN][1000 genomes]
rs3853183	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3853184	0.84[EUR][1000 genomes]
rs3942252	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4337757	0.82[EUR][1000 genomes]
rs4349625	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs436611	0.84[EUR][1000 genomes]
rs443952	0.82[EUR][1000 genomes]
rs4859403	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859542	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859543	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859544	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859545	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859546	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859547	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859548	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859550	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5020591	0.84[EUR][1000 genomes]
rs6419115	0.84[EUR][1000 genomes]
rs6531778	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6531866	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6531867	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6531868	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6531889	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6531902	0.84[EUR][1000 genomes]
rs6531903	0.84[EUR][1000 genomes]
rs6826858	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6827809	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6828365	0.84[EUR][1000 genomes]
rs6829402	0.82[EUR][1000 genomes]
rs6832912	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6835702	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6835819	0.84[EUR][1000 genomes]
rs6842216	0.84[EUR][1000 genomes]
rs6855321	0.84[EUR][1000 genomes]
rs6858741	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7356270	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7356310	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7657871	0.87[EUR][1000 genomes]
rs7659408	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7662940	0.87[EUR][1000 genomes]
rs7672378	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7674063	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7674328	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7677150	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7685459	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7691385	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7691765	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7696241	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9942164	0.92[AMR][1000 genomes];0.85[EUR][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	nsv879496	chr4:76493256-76620803	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv879497	chr4:76519096-76620803	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76599000-76619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:76599000-76620400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:76599200-76620000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:76599200-76640000	Weak transcription	Aorta	Aorta
5	chr4:76599400-76613000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:76599400-76617400	Weak transcription	Fetal Stomach	stomach
7	chr4:76599400-76619200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:76599400-76620400	Weak transcription	Left Ventricle	heart
9	chr4:76599600-76608200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:76599600-76608600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:76599600-76610800	Weak transcription	Brain Anterior Caudate	brain
12	chr4:76599600-76611200	Weak transcription	HSMMtube	muscle
13	chr4:76599600-76611400	Weak transcription	HSMM	muscle
14	chr4:76599600-76612200	Weak transcription	Brain Germinal Matrix	brain
15	chr4:76599600-76615600	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:76599600-76621600	Weak transcription	Fetal Lung	lung
17	chr4:76599600-76623400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:76599600-76624000	Weak transcription	Brain Substantia Nigra	brain
19	chr4:76599600-76639800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:76599600-76639800	Weak transcription	Brain Angular Gyrus	brain
21	chr4:76599600-76639800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:76599600-76647600	Weak transcription	Fetal Brain Female	brain
23	chr4:76599800-76608200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr4:76599800-76610800	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:76599800-76611800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:76599800-76612200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:76599800-76612600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:76599800-76612600	Weak transcription	A549	lung
29	chr4:76599800-76613000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:76599800-76613600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:76599800-76619800	Weak transcription	Liver	Liver
32	chr4:76599800-76621200	Weak transcription	HepG2	liver
33	chr4:76599800-76627800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr4:76600400-76640000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:76600600-76608200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:76600600-76627000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr4:76600800-76612000	Weak transcription	Fetal Intestine Small	intestine
38	chr4:76603600-76612000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:76603600-76617600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:76604800-76612400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:76605000-76608200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:76605200-76611000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:76605800-76612000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr4:76605800-76612200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:76605800-76623400	Weak transcription	K562	blood
46	chr4:76605800-76633200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:76606000-76610200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr4:76606000-76610400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:76606000-76619800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:76606200-76608400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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