Variant report

Variant	rs2851485
Chromosome Location	chr7:69074768-69074769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10085775	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1014382	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10237145	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10241485	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11765886	0.83[ASN][1000 genomes]
rs12333508	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531914	0.83[ASN][1000 genomes]
rs13232095	0.81[AMR][1000 genomes]
rs1468588	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2058395	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs210598	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs210600	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs210603	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2253711	0.92[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2533432	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2533434	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2533440	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2533446	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2533447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2533449	0.84[EUR][1000 genomes]
rs2533456	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2851488	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2851500	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851504	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851512	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851517	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41851	0.83[ASN][1000 genomes]
rs41855	0.83[ASN][1000 genomes]
rs41858	0.83[ASN][1000 genomes]
rs4717521	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5005279	0.80[CEU][hapmap]
rs521259	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs563740	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs585282	0.82[JPT][hapmap]
rs588004	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs595681	0.80[JPT][hapmap]
rs60739014	0.83[ASN][1000 genomes]
rs608796	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs610930	0.80[JPT][hapmap]
rs611052	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs611573	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs622767	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs624626	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs674865	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6955815	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6957302	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6959766	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6974004	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs720056	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781403	0.83[ASN][1000 genomes]
rs7793984	0.85[ASN][1000 genomes]
rs917616	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9692258	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs981291	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs988282	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	nsv1023885	chr7:68894896-69158290	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538915	chr7:68894896-69158290	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv428169	chr7:69021482-69196743	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69066600-69079600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:69066800-69084600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:69068200-69074800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:69069200-69074800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr7:69069200-69075600	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:69069600-69075000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:69069800-69074800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:69069800-69075200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:69070200-69077600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:69070600-69075000	Weak transcription	Adipose Nuclei	Adipose
11	chr7:69070600-69075000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:69070600-69077800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:69070800-69074800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:69070800-69074800	Weak transcription	Brain Anterior Caudate	brain
15	chr7:69071000-69078000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:69071400-69075000	Weak transcription	GM12878-XiMat	blood
17	chr7:69072000-69075000	Weak transcription	Fetal Brain Male	brain
18	chr7:69072000-69077600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:69072600-69076400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:69072800-69075200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr7:69073200-69075600	Weak transcription	Psoas Muscle	Psoas
22	chr7:69073400-69075200	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:69073600-69075600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr7:69073600-69076400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr7:69074000-69075000	Weak transcription	Fetal Kidney	kidney
26	chr7:69074000-69075200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:69074000-69076000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:69074000-69076400	Enhancers	Brain Germinal Matrix	brain
29	chr7:69074000-69076400	Enhancers	Fetal Stomach	stomach
30	chr7:69074400-69076000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr7:69074400-69076400	Enhancers	Fetal Brain Female	brain
32	chr7:69074600-69075000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:69074600-69075800	Enhancers	Ovary	ovary
34	chr7:69074600-69076400	Enhancers	Fetal Lung	lung

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