Variant report

Variant	rs697596
Chromosome Location	chr7:137272225-137272226
allele	G/T
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:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10081252	1.00[JPT][hapmap]
rs10229086	1.00[JPT][hapmap]
rs10233537	1.00[JPT][hapmap]
rs10237704	1.00[JPT][hapmap]
rs10238276	1.00[JPT][hapmap]
rs10238305	1.00[JPT][hapmap]
rs10242488	1.00[JPT][hapmap]
rs10245413	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10246829	1.00[JPT][hapmap]
rs10246952	1.00[JPT][hapmap]
rs10252668	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs10255388	1.00[JPT][hapmap]
rs10255937	1.00[JPT][hapmap]
rs10261618	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs10264172	1.00[JPT][hapmap]
rs10264413	1.00[JPT][hapmap]
rs10271043	1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10273321	1.00[JPT][hapmap]
rs10273400	1.00[MEX][hapmap]
rs10274366	0.94[ASN][1000 genomes]
rs10274702	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10277872	1.00[JPT][hapmap]
rs10279489	1.00[JPT][hapmap]
rs10280229	1.00[JPT][hapmap]
rs10281244	1.00[JPT][hapmap]
rs17169237	1.00[JPT][hapmap]
rs17169284	1.00[JPT][hapmap]
rs17169298	0.83[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17169313	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17169324	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1728450	1.00[JPT][hapmap]
rs1728453	1.00[JPT][hapmap]
rs28451058	0.82[ASN][1000 genomes]
rs28683654	1.00[ASN][1000 genomes]
rs3800605	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3800609	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3800610	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3800611	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3823547	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6945473	1.00[JPT][hapmap]
rs6949210	0.82[ASN][1000 genomes]
rs6949568	0.82[ASN][1000 genomes]
rs6969227	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6969358	0.82[ASN][1000 genomes]
rs706560	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs706561	0.85[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[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]
rs73453584	1.00[ASN][1000 genomes]
rs73453598	1.00[ASN][1000 genomes]
rs7781327	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs7800321	1.00[JPT][hapmap]
rs834069	1.00[JPT][hapmap]
rs834095	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs834099	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs834100	1.00[ASW][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs834438	0.82[ASN][1000 genomes]
rs834439	0.83[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.82[ASN][1000 genomes]
rs834444	1.00[JPT][hapmap]
rs834447	1.00[JPT][hapmap]
rs863082	1.00[JPT][hapmap]

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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137215400-137275400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:137224400-137274800	Weak transcription	HSMMtube	muscle
3	chr7:137237400-137277800	Weak transcription	Aorta	Aorta
4	chr7:137255000-137274800	Weak transcription	Brain Anterior Caudate	brain
5	chr7:137260400-137274200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:137263600-137273600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:137264800-137274800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:137264800-137275600	Weak transcription	Fetal Brain Male	brain
9	chr7:137265000-137274800	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:137265000-137274800	Weak transcription	Brain Substantia Nigra	brain
11	chr7:137265000-137275000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:137265200-137274000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:137265400-137274000	Weak transcription	Fetal Heart	heart
14	chr7:137265400-137274400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:137265400-137276000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:137265600-137274400	Weak transcription	NH-A	brain
17	chr7:137265600-137276000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:137265800-137276200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:137266600-137274400	Weak transcription	HSMM	muscle
20	chr7:137266800-137276000	Weak transcription	Osteobl	bone
21	chr7:137268400-137273800	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:137268800-137274800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:137269000-137274200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:137270200-137274400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:137270200-137291400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:137270800-137274400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:137271000-137275000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:137271400-137275800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:137271400-137286600	Weak transcription	Brain Germinal Matrix	brain
30	chr7:137272000-137272800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr7:137272000-137274000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:137272000-137274200	Weak transcription	Fetal Stomach	stomach

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