Variant report

Variant	rs7724551
Chromosome Location	chr5:60649468-60649469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60634969..60638918-chr5:60646594..60650341,4	K562	blood:
2	chr5:60648141..60649719-chr5:60652179..60654766,2	K562	blood:
3	chr5:60626829..60629438-chr5:60648479..60650093,2	MCF-7	breast:
4	chr5:60627630..60629633-chr5:60648859..60650448,2	K562	blood:
5	chr5:60642800..60645654-chr5:60648983..60651789,2	K562	blood:
6	chr5:60637077..60642495-chr5:60646912..60651371,7	MCF-7	breast:
7	chr5:60626717..60629639-chr5:60647070..60651893,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251682	Chromatin interaction
ENSG00000130449	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10041978	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1045352	0.80[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs10939900	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10939901	0.98[ASN][1000 genomes]
rs10939902	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10939903	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11743711	0.86[ASN][1000 genomes]
rs11749200	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs11750589	0.96[ASN][1000 genomes]
rs11950318	0.82[ASN][1000 genomes]
rs11952146	0.80[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs11954859	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12187112	0.92[ASN][1000 genomes]
rs12188627	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12189001	0.98[ASN][1000 genomes]
rs12518479	0.98[ASN][1000 genomes]
rs12520628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12522647	0.84[ASN][1000 genomes]
rs12523278	0.83[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs13158675	0.98[ASN][1000 genomes]
rs13162358	0.98[ASN][1000 genomes]
rs13169711	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13170135	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13171757	0.86[ASN][1000 genomes]
rs13172084	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs13178686	0.98[ASN][1000 genomes]
rs13181015	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13186194	0.80[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs13188327	0.91[ASN][1000 genomes]
rs1374043	0.81[EUR][1000 genomes]
rs1445979	0.84[ASN][1000 genomes]
rs1477355	0.84[ASN][1000 genomes]
rs1986252	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2276987	0.94[JPT][hapmap]
rs28610339	0.96[ASN][1000 genomes]
rs34739794	0.95[ASN][1000 genomes]
rs35262187	0.98[ASN][1000 genomes]
rs4132385	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4276369	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4352559	0.81[CEU][hapmap];0.80[MEX][hapmap]
rs4391122	0.85[CEU][hapmap];0.88[YRI][hapmap]
rs4392578	0.98[ASN][1000 genomes]
rs4484384	0.98[ASN][1000 genomes]
rs4546329	0.83[MEX][hapmap];0.80[TSI][hapmap]
rs4604142	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4700418	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5027472	0.88[ASN][1000 genomes]
rs56035042	0.98[ASN][1000 genomes]
rs60529601	0.98[ASN][1000 genomes]
rs60886975	0.98[ASN][1000 genomes]
rs62368660	0.98[ASN][1000 genomes]
rs6449528	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6449529	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6449530	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6449531	0.96[ASN][1000 genomes]
rs6449532	0.96[ASN][1000 genomes]
rs6449533	0.96[ASN][1000 genomes]
rs6449535	0.84[ASN][1000 genomes]
rs6860608	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6873712	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs6877610	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6878927	0.80[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs6879809	0.85[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs6881765	0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6885005	0.96[ASN][1000 genomes]
rs6890351	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs6890684	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6894675	0.96[ASN][1000 genomes]
rs6895046	0.80[EUR][1000 genomes]
rs7700289	0.98[ASN][1000 genomes]
rs7701440	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7709645	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7714712	0.96[ASN][1000 genomes]
rs7720894	0.89[EUR][1000 genomes]
rs7722810	0.85[ASN][1000 genomes]
rs7727824	0.96[ASN][1000 genomes]
rs7732234	0.81[AMR][1000 genomes]
rs7734879	0.96[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	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv823089	chr5:60589501-60669903	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv1815974	chr5:60626344-60664356	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60631400-60652800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:60637200-60651200	Enhancers	Brain Anterior Caudate	brain
3	chr5:60638000-60651200	Enhancers	Brain Hippocampus Middle	brain
4	chr5:60638200-60653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:60638400-60650600	Enhancers	Brain Substantia Nigra	brain
6	chr5:60638400-60653000	Weak transcription	NHEK	skin
7	chr5:60638400-60655000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:60638400-60665200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:60638800-60650600	Enhancers	Brain Angular Gyrus	brain
10	chr5:60640400-60652800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:60640400-60665600	Weak transcription	Gastric	stomach
12	chr5:60640600-60658400	Weak transcription	Fetal Brain Female	brain
13	chr5:60640600-60658400	Weak transcription	NHLF	lung
14	chr5:60641600-60667400	Weak transcription	Fetal Kidney	kidney
15	chr5:60642400-60650000	Enhancers	Brain Cingulate Gyrus	brain
16	chr5:60642600-60649800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:60643000-60649800	Weak transcription	Fetal Intestine Small	intestine
18	chr5:60643200-60653000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:60643200-60658400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:60643400-60652800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:60643400-60652800	Weak transcription	NHDF-Ad	bronchial
22	chr5:60643400-60660800	Weak transcription	Esophagus	oesophagus
23	chr5:60643400-60663200	Weak transcription	Spleen	Spleen
24	chr5:60643600-60652000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:60644600-60650600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr5:60646000-60649600	Enhancers	Fetal Heart	heart
27	chr5:60646600-60658400	Weak transcription	HSMMtube	muscle
28	chr5:60646800-60650000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr5:60647000-60650000	Enhancers	Colon Smooth Muscle	Colon
30	chr5:60647000-60650200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:60647200-60653200	Weak transcription	HSMM	muscle
32	chr5:60647600-60649800	Enhancers	Liver	Liver
33	chr5:60647800-60650000	Enhancers	Ovary	ovary
34	chr5:60647800-60655200	Weak transcription	Small Intestine	intestine
35	chr5:60648000-60652000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:60648000-60658400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:60648200-60649600	Weak transcription	A549	lung
38	chr5:60648200-60652800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:60648200-60658200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr5:60648200-60664600	Weak transcription	Aorta	Aorta
41	chr5:60648400-60650000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr5:60648400-60650000	Enhancers	Left Ventricle	heart
43	chr5:60648400-60650000	Enhancers	Psoas Muscle	Psoas
44	chr5:60648400-60650000	Enhancers	Right Ventricle	heart
45	chr5:60648600-60649800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr5:60648600-60650000	Enhancers	Pancreas	Pancrea
47	chr5:60648600-60650000	Enhancers	Right Atrium	heart
48	chr5:60648800-60652000	Weak transcription	Lung	lung
49	chr5:60648800-60653000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:60649000-60653000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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