Variant report

Variant	rs738074
Chromosome Location	chr2:206410394-206410395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10469758	0.83[AMR][1000 genomes]
rs10932117	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11684023	1.00[AMR][1000 genomes]
rs12471061	0.83[AMR][1000 genomes]
rs1473084	1.00[AMR][1000 genomes]
rs1974688	1.00[AMR][1000 genomes]
rs1988085	1.00[AMR][1000 genomes]
rs2160383	1.00[AMR][1000 genomes]
rs2216109	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2878751	1.00[AMR][1000 genomes]
rs4618031	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4625893	1.00[AMR][1000 genomes]
rs4675533	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4675534	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6730102	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6743334	1.00[AMR][1000 genomes]
rs7349394	1.00[AMR][1000 genomes]
rs7355229	0.85[AFR][1000 genomes]
rs7594189	0.83[AMR][1000 genomes]
rs764150	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288368	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs975103	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs991689	1.00[AMR][1000 genomes]
rs9973667	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv10162	chr2:206272092-206525287	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv19770	chr2:206283097-206671319	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2751840	chr2:206314671-206512921	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1007821	chr2:206333129-206465451	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv584245	chr2:206346410-206464465	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206397400-206410600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:206405000-206410800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:206405000-206446600	Weak transcription	Ovary	ovary
4	chr2:206405200-206430600	Weak transcription	Adipose Nuclei	Adipose
5	chr2:206405400-206410800	Weak transcription	Primary T cells from cord blood	blood
6	chr2:206405400-206410800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:206405400-206421600	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:206405600-206435400	Weak transcription	Fetal Stomach	stomach
9	chr2:206405600-206445000	Weak transcription	HSMMtube	muscle
10	chr2:206407400-206415000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:206407600-206413000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:206407800-206410400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr2:206408200-206411000	Enhancers	Rectal Smooth Muscle	rectum
14	chr2:206408800-206410800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr2:206409000-206431200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:206409400-206410600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:206409600-206420400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:206410000-206427400	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:206410200-206411000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:206410200-206411000	Enhancers	Fetal Brain Female	brain
21	chr2:206410200-206411200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:206410200-206411400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:206410200-206412600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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