Variant report

Variant	rs7606712
Chromosome Location	chr2:168438418-168438419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:168436976..168439202-chr2:168443810..168446763,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1025430	1.00[EUR][1000 genomes]
rs1036130	1.00[EUR][1000 genomes]
rs1147152	1.00[EUR][1000 genomes]
rs1147153	1.00[EUR][1000 genomes]
rs1147156	1.00[EUR][1000 genomes]
rs11891312	1.00[EUR][1000 genomes]
rs1226903	1.00[EUR][1000 genomes]
rs1227108	1.00[EUR][1000 genomes]
rs1227109	1.00[EUR][1000 genomes]
rs1227110	1.00[EUR][1000 genomes]
rs1227112	1.00[EUR][1000 genomes]
rs1227118	1.00[EUR][1000 genomes]
rs1227119	1.00[EUR][1000 genomes]
rs1227121	1.00[EUR][1000 genomes]
rs1227124	1.00[EUR][1000 genomes]
rs1227125	1.00[EUR][1000 genomes]
rs1227126	1.00[EUR][1000 genomes]
rs1228654	1.00[EUR][1000 genomes]
rs1228655	1.00[EUR][1000 genomes]
rs1236835	1.00[EUR][1000 genomes]
rs1237507	1.00[EUR][1000 genomes]
rs1237906	1.00[EUR][1000 genomes]
rs1238297	1.00[EUR][1000 genomes]
rs1238300	1.00[EUR][1000 genomes]
rs1239011	1.00[EUR][1000 genomes]
rs1239012	1.00[EUR][1000 genomes]
rs13413032	1.00[EUR][1000 genomes]
rs1431905	1.00[EUR][1000 genomes]
rs1431910	1.00[EUR][1000 genomes]
rs1523880	1.00[EUR][1000 genomes]
rs1625491	1.00[EUR][1000 genomes]
rs1653386	1.00[EUR][1000 genomes]
rs1653403	1.00[EUR][1000 genomes]
rs1653406	1.00[EUR][1000 genomes]
rs16853638	1.00[EUR][1000 genomes]
rs16853656	1.00[EUR][1000 genomes]
rs1730672	1.00[EUR][1000 genomes]
rs1730685	1.00[EUR][1000 genomes]
rs1730701	1.00[EUR][1000 genomes]
rs1730702	1.00[EUR][1000 genomes]
rs1730709	1.00[EUR][1000 genomes]
rs1730724	1.00[EUR][1000 genomes]
rs1964366	1.00[EUR][1000 genomes]
rs2436053	1.00[EUR][1000 genomes]
rs2464040	1.00[EUR][1000 genomes]
rs2617384	1.00[EUR][1000 genomes]
rs28439206	1.00[EUR][1000 genomes]
rs28699542	1.00[EUR][1000 genomes]
rs58329901	1.00[EUR][1000 genomes]
rs58381721	1.00[EUR][1000 genomes]
rs58529068	1.00[EUR][1000 genomes]
rs60039058	1.00[EUR][1000 genomes]
rs6432999	1.00[EUR][1000 genomes]
rs6712894	1.00[EUR][1000 genomes]
rs6719316	1.00[EUR][1000 genomes]
rs6725468	1.00[EUR][1000 genomes]
rs6729236	1.00[EUR][1000 genomes]
rs6740851	1.00[EUR][1000 genomes]
rs6750622	1.00[EUR][1000 genomes]
rs73022071	1.00[EUR][1000 genomes]
rs73022078	1.00[EUR][1000 genomes]
rs73022085	1.00[EUR][1000 genomes]
rs73022089	1.00[EUR][1000 genomes]
rs73023884	1.00[EUR][1000 genomes]
rs73024003	1.00[EUR][1000 genomes]
rs73024049	1.00[EUR][1000 genomes]
rs73024058	1.00[EUR][1000 genomes]
rs73972301	1.00[EUR][1000 genomes]
rs7557157	1.00[EUR][1000 genomes]
rs7567053	1.00[EUR][1000 genomes]
rs7567252	1.00[EUR][1000 genomes]
rs979974	1.00[EUR][1000 genomes]
rs991159	1.00[EUR][1000 genomes]
rs994428	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv834449	chr2:168340043-168511856	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv583592	chr2:168356232-168721539	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1008206	chr2:168401249-168452887	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv528466	chr2:168402224-168447851	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv583593	chr2:168402224-168452630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1004326	chr2:168403386-168452887	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168437200-168438600	Weak transcription	Fetal Lung	lung
2	chr2:168437600-168440600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:168437800-168439800	Enhancers	Brain Germinal Matrix	brain
4	chr2:168438000-168438600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:168438000-168438600	Enhancers	Fetal Brain Male	brain
6	chr2:168438000-168438800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:168438000-168439600	Enhancers	HSMMtube	muscle
8	chr2:168438200-168438600	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr2:168438200-168438800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:168438200-168439600	Enhancers	NH-A	brain
11	chr2:168438200-168439800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:168438200-168440000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:168438400-168438600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:168438400-168438800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:168438400-168438800	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr2:168438400-168438800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr2:168438400-168438800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:168438400-168438800	Active TSS	Brain Anterior Caudate	brain
19	chr2:168438400-168438800	Enhancers	Brain Cingulate Gyrus	brain
20	chr2:168438400-168438800	Active TSS	Fetal Brain Female	brain
21	chr2:168438400-168438800	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr2:168438400-168439000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:168438400-168439000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:168438400-168439000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:168438400-168439000	Active TSS	Osteobl	bone
26	chr2:168438400-168439400	Enhancers	Fetal Muscle Leg	muscle

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