Variant report

Variant	rs706561
Chromosome Location	chr7:137275430-137275431
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137271464..137273699-chr7:137274324..137276160,3	K562	blood:
2	chr7:137268781..137270791-chr7:137274029..137275875,2	K562	blood:

Extended variants
information (count: 187 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:183)

rs_ID	r²[population]
rs10081252	0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10226970	1.00[EUR][1000 genomes]
rs10229086	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10232182	1.00[EUR][1000 genomes]
rs10233537	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10234462	1.00[EUR][1000 genomes]
rs10237704	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10238276	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10238305	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10242081	1.00[EUR][1000 genomes]
rs10242488	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10242747	1.00[EUR][1000 genomes]
rs10245413	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246490	1.00[EUR][1000 genomes]
rs10246829	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10246952	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10252668	0.83[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs10255388	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10255937	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10260210	0.89[EUR][1000 genomes]
rs10260958	1.00[EUR][1000 genomes]
rs10261618	0.83[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs10264172	1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs10264413	0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10268521	1.00[EUR][1000 genomes]
rs10271043	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10273321	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10274366	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10274702	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277872	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10279489	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10280229	1.00[JPT][hapmap]
rs10281244	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1358445	0.89[EUR][1000 genomes]
rs1358446	0.89[EUR][1000 genomes]
rs1358447	0.88[GIH][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs1364367	1.00[EUR][1000 genomes]
rs1525043	1.00[EUR][1000 genomes]
rs1525044	1.00[EUR][1000 genomes]
rs1525046	1.00[EUR][1000 genomes]
rs1525047	1.00[EUR][1000 genomes]
rs1525049	0.84[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1614024	1.00[EUR][1000 genomes]
rs1615692	1.00[EUR][1000 genomes]
rs1629172	1.00[EUR][1000 genomes]
rs1646364	1.00[EUR][1000 genomes]
rs1646371	1.00[EUR][1000 genomes]
rs1646372	0.89[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1646373	1.00[EUR][1000 genomes]
rs1646375	0.89[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1646376	1.00[EUR][1000 genomes]
rs1646377	1.00[EUR][1000 genomes]
rs1646378	1.00[EUR][1000 genomes]
rs1646379	0.82[EUR][1000 genomes]
rs1646380	1.00[EUR][1000 genomes]
rs1646381	1.00[EUR][1000 genomes]
rs1646382	1.00[EUR][1000 genomes]
rs1646383	1.00[EUR][1000 genomes]
rs1646384	1.00[EUR][1000 genomes]
rs1646385	1.00[EUR][1000 genomes]
rs1646386	1.00[EUR][1000 genomes]
rs1646387	1.00[EUR][1000 genomes]
rs1646388	1.00[EUR][1000 genomes]
rs1646389	0.94[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1646390	1.00[EUR][1000 genomes]
rs1646393	1.00[EUR][1000 genomes]
rs1646395	1.00[EUR][1000 genomes]
rs1646397	1.00[EUR][1000 genomes]
rs1646400	1.00[EUR][1000 genomes]
rs1646401	1.00[EUR][1000 genomes]
rs17169237	0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs17169262	1.00[EUR][1000 genomes]
rs17169284	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17169298	0.83[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17169313	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17169324	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1723086	1.00[EUR][1000 genomes]
rs1723088	1.00[EUR][1000 genomes]
rs1723089	1.00[EUR][1000 genomes]
rs1723090	1.00[EUR][1000 genomes]
rs1723091	1.00[EUR][1000 genomes]
rs1723094	1.00[EUR][1000 genomes]
rs1723095	1.00[EUR][1000 genomes]
rs1723096	1.00[EUR][1000 genomes]
rs1723101	1.00[EUR][1000 genomes]
rs1723102	1.00[EUR][1000 genomes]
rs1723103	1.00[EUR][1000 genomes]
rs1723104	1.00[EUR][1000 genomes]
rs1723106	1.00[EUR][1000 genomes]
rs1723107	1.00[EUR][1000 genomes]
rs1723109	1.00[EUR][1000 genomes]
rs1723119	1.00[EUR][1000 genomes]
rs1723120	1.00[EUR][1000 genomes]
rs1723122	1.00[EUR][1000 genomes]
rs1723123	1.00[EUR][1000 genomes]
rs1728441	1.00[EUR][1000 genomes]
rs1728442	1.00[EUR][1000 genomes]
rs1728443	0.89[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1728450	1.00[JPT][hapmap]
rs1728453	1.00[JPT][hapmap]
rs1728476	0.89[EUR][1000 genomes]
rs1728491	1.00[EUR][1000 genomes]
rs1728493	1.00[EUR][1000 genomes]
rs1728495	1.00[EUR][1000 genomes]
rs1728496	1.00[EUR][1000 genomes]
rs1728497	1.00[EUR][1000 genomes]
rs1728498	0.94[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2293547	0.89[EUR][1000 genomes]
rs2293548	0.89[EUR][1000 genomes]
rs2550979	1.00[EUR][1000 genomes]
rs2550981	1.00[EUR][1000 genomes]
rs2692001	1.00[EUR][1000 genomes]
rs2692002	1.00[EUR][1000 genomes]
rs2692003	1.00[EUR][1000 genomes]
rs2692006	1.00[EUR][1000 genomes]
rs2692007	1.00[EUR][1000 genomes]
rs2692008	0.94[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28401380	0.89[EUR][1000 genomes]
rs28451058	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28521198	0.89[EUR][1000 genomes]
rs28572056	1.00[EUR][1000 genomes]
rs28683654	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28711988	0.89[EUR][1000 genomes]
rs28736349	1.00[EUR][1000 genomes]
rs28755996	1.00[EUR][1000 genomes]
rs28758372	0.89[EUR][1000 genomes]
rs3800605	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3800609	1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800610	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800611	1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823545	1.00[EUR][1000 genomes]
rs3823547	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57226761	1.00[EUR][1000 genomes]
rs58048755	1.00[EUR][1000 genomes]
rs59024585	0.89[EUR][1000 genomes]
rs6945142	0.89[EUR][1000 genomes]
rs6945473	1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs6946246	0.89[EUR][1000 genomes]
rs6949210	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6949568	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6963894	0.89[EUR][1000 genomes]
rs6964439	0.89[EUR][1000 genomes]
rs6964837	0.89[GIH][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs6969227	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6969358	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs697596	0.85[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs706560	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs706562	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs706567	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs706568	1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs73449424	0.89[EUR][1000 genomes]
rs73449434	0.89[EUR][1000 genomes]
rs73449444	1.00[EUR][1000 genomes]
rs73451467	1.00[EUR][1000 genomes]
rs73453511	1.00[EUR][1000 genomes]
rs73453514	1.00[EUR][1000 genomes]
rs73453584	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73453598	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73728712	0.89[EUR][1000 genomes]
rs73728713	0.89[EUR][1000 genomes]
rs73728732	1.00[EUR][1000 genomes]
rs7781327	0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7800321	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs834051	1.00[EUR][1000 genomes]
rs834052	1.00[EUR][1000 genomes]
rs834054	0.89[GIH][hapmap];0.83[TSI][hapmap];1.00[EUR][1000 genomes]
rs834055	1.00[EUR][1000 genomes]
rs834056	1.00[EUR][1000 genomes]
rs834057	1.00[EUR][1000 genomes]
rs834058	1.00[EUR][1000 genomes]
rs834069	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs834077	1.00[EUR][1000 genomes]
rs834078	1.00[EUR][1000 genomes]
rs834086	0.89[GIH][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs834095	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs834099	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs834100	0.85[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[ASN][1000 genomes]
rs834438	0.82[ASN][1000 genomes]
rs834439	0.83[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs834444	1.00[JPT][hapmap]
rs834447	1.00[JPT][hapmap]
rs863082	1.00[JPT][hapmap]
rs865021	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869820	chr7:136990386-137347718	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1027868	chr7:137004690-137311653	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv539134	chr7:137004690-137311653	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137237400-137277800	Weak transcription	Aorta	Aorta
2	chr7:137264800-137275600	Weak transcription	Fetal Brain Male	brain
3	chr7:137265400-137276000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:137265600-137276000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:137265800-137276200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:137266800-137276000	Weak transcription	Osteobl	bone
7	chr7:137270200-137291400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:137271400-137275800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:137271400-137286600	Weak transcription	Brain Germinal Matrix	brain
10	chr7:137273600-137275800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:137274000-137277000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:137274000-137277200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:137274000-137277800	Enhancers	Fetal Heart	heart
14	chr7:137274200-137276800	Enhancers	Stomach Smooth Muscle	stomach
15	chr7:137274200-137277200	Enhancers	Fetal Stomach	stomach
16	chr7:137274200-137277600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:137274400-137276400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:137274400-137277000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:137274400-137277200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr7:137274400-137277400	Enhancers	HSMM	muscle
21	chr7:137274400-137277600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:137274400-137277800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr7:137274800-137275600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:137274800-137276400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:137274800-137276600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:137274800-137276800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr7:137274800-137276800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:137274800-137277000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:137274800-137277000	Enhancers	HSMMtube	muscle
30	chr7:137275000-137275600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr7:137275000-137276200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:137275000-137276200	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:137275000-137276400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr7:137275000-137276400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:137275000-137277000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr7:137275000-137277000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr7:137275000-137277400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:137275200-137276200	Weak transcription	Fetal Brain Female	brain
39	chr7:137275200-137276200	Weak transcription	Fetal Muscle Leg	muscle
40	chr7:137275200-137276400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr7:137275400-137275600	Active TSS	Brain Anterior Caudate	brain
42	chr7:137275400-137275600	Flanking Active TSS	NH-A	brain
43	chr7:137275400-137275800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:137275400-137275800	Active TSS	Brain Hippocampus Middle	brain
45	chr7:137275400-137275800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr7:137275400-137275800	Active TSS	Brain Substantia Nigra	brain
47	chr7:137275400-137276000	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr7:137275400-137276400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:137275400-137276600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr7:137275400-137277000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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