Variant report

Variant	rs6531868
Chromosome Location	chr4:76623431-76623432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10009902	0.80[EUR][1000 genomes]
rs10014281	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10025315	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10028884	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10029110	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11097069	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11097070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729258	0.80[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11736474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11737705	0.83[EUR][1000 genomes]
rs13116639	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13118426	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13133699	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13137468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13138717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13140908	0.81[EUR][1000 genomes]
rs1464070	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1464071	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1546539	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1548175	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1553984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1553986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1828629	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1913299	0.82[AMR][1000 genomes]
rs1967495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226416	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2280095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2869174	0.80[AMR][1000 genomes]
rs324682	0.80[AMR][1000 genomes]
rs324685	0.85[AMR][1000 genomes]
rs324689	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs324692	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs324695	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs324707	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs324708	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs324711	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs324715	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs324716	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs324717	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs324718	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs324721	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs324724	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs324725	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs324737	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3796473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3796485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796488	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3821977	0.84[ASN][1000 genomes]
rs3853183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3853184	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3942252	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4337757	0.81[EUR][1000 genomes]
rs4349625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs436611	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs443952	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4859403	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859537	0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4859542	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859544	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859545	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859547	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859550	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5020591	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6419115	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6531778	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6531784	0.80[AMR][1000 genomes]
rs6531841	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6531866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531867	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531889	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6531902	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6531903	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6826858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6827809	1.00[CHB][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6828365	0.83[EUR][1000 genomes]
rs6829402	0.81[EUR][1000 genomes]
rs6832912	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6835702	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6835819	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6842216	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6855321	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6858741	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7356270	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7356310	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7657871	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7659408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7662940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7672378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7674063	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7674328	1.00[CHB][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7677150	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7685459	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7691385	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7691765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696241	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9942164	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76599200-76640000	Weak transcription	Aorta	Aorta
2	chr4:76599600-76624000	Weak transcription	Brain Substantia Nigra	brain
3	chr4:76599600-76639800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:76599600-76639800	Weak transcription	Brain Angular Gyrus	brain
5	chr4:76599600-76639800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:76599600-76647600	Weak transcription	Fetal Brain Female	brain
7	chr4:76599800-76627800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:76600400-76640000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:76600600-76627000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:76605800-76633200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:76607400-76640600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:76613200-76627800	Weak transcription	A549	lung
13	chr4:76613800-76639000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:76613800-76639600	Weak transcription	Ovary	ovary
15	chr4:76614600-76630200	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:76614800-76628200	Weak transcription	Gastric	stomach
17	chr4:76615600-76639800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:76615600-76639800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:76615800-76639000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:76616000-76640000	Weak transcription	Lung	lung
21	chr4:76616200-76630200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:76618200-76635000	Weak transcription	Adipose Nuclei	Adipose
23	chr4:76618400-76639000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:76618600-76623600	Weak transcription	Thymus	Thymus
25	chr4:76619000-76623600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:76619400-76633400	Weak transcription	Fetal Kidney	kidney
27	chr4:76619600-76630400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:76620000-76630400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:76620000-76640000	Weak transcription	Brain Germinal Matrix	brain
30	chr4:76620200-76623600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:76620200-76627600	Weak transcription	Liver	Liver
32	chr4:76620200-76627800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:76620200-76627800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:76620400-76627800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:76620400-76630400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:76620400-76630600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:76620400-76639600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:76620600-76623600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:76620600-76627600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:76620600-76627800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr4:76620600-76627800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:76620600-76628000	Weak transcription	Fetal Stomach	stomach
43	chr4:76620600-76631400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr4:76620600-76640600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:76620800-76630400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr4:76621000-76640600	Weak transcription	Right Ventricle	heart
47	chr4:76621600-76623600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:76621800-76627800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr4:76621800-76642400	Weak transcription	Left Ventricle	heart
50	chr4:76622000-76623600	Weak transcription	Psoas Muscle	Psoas

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