Variant report

Variant	rs344443
Chromosome Location	chr7:146332201-146332202
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11980615	0.83[YRI][hapmap]
rs11981917	0.83[YRI][hapmap]
rs1405172	0.83[YRI][hapmap]
rs1522224	0.83[YRI][hapmap]
rs2693390	0.83[YRI][hapmap]
rs344447	0.81[AFR][1000 genomes]
rs347174	0.83[YRI][hapmap]
rs347182	0.83[YRI][hapmap]
rs347207	0.83[YRI][hapmap]
rs347210	0.83[YRI][hapmap]
rs347221	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs347224	0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6948630	0.83[YRI][hapmap]
rs802011	0.83[YRI][hapmap]
rs802015	0.82[YRI][hapmap]
rs802016	0.83[YRI][hapmap]
rs802018	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889391	chr7:146168418-146389259	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1032959	chr7:146193191-146351005	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1021967	chr7:146199590-146413808	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1015996	chr7:146202073-146419347	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv934014	chr7:146212698-146400508	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1022547	chr7:146226298-146624409	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv996300	chr7:146236230-146663300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv1025948	chr7:146252115-146393151	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv948895	chr7:146260214-146348562	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv2761376	chr7:146287876-146334647	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1018605	chr7:146287876-146448400	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv889392	chr7:146292088-146446767	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1027561	chr7:146308783-146762872	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv1034346	chr7:146326815-146367793	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146331200-146334200	Enhancers	Brain Germinal Matrix	brain
2	chr7:146331600-146333200	Weak transcription	Fetal Brain Male	brain
3	chr7:146332000-146333200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:146332200-146333200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:146332200-146333400	Enhancers	Fetal Thymus	thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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