Variant report

Variant	rs17689493
Chromosome Location	chr3:61158349-61158350
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12486280	0.83[ASN][1000 genomes]
rs17637930	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56208358	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56296603	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59406667	0.87[ASN][1000 genomes]
rs60134305	0.83[ASN][1000 genomes]
rs72879845	0.90[ASN][1000 genomes]
rs940337	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759152	chr3:60781943-61220809	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv948633	chr3:60993915-61171279	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv2757873	chr3:61019003-61185558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv876866	chr3:61054494-61310328	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv876867	chr3:61054494-61474575	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv432423	chr3:61100255-61606060	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised 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
7	nsv1000378	chr3:61103229-61238089	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv590425	chr3:61132698-61186550	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1012435	chr3:61136874-61181318	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv1014142	chr3:61136874-61184782	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv2756994	chr3:61144427-61220809	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv876868	chr3:61145050-61282503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61141800-61158400	Weak transcription	Pancreas	Pancrea
2	chr3:61149400-61159400	Weak transcription	Fetal Intestine Large	intestine
3	chr3:61151200-61188000	Weak transcription	Primary T cells from cord blood	blood
4	chr3:61154200-61160400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:61154400-61158400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:61156200-61159400	Weak transcription	Liver	Liver
7	chr3:61157200-61160000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:61157400-61158800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:61157400-61159600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:61157400-61161200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr3:61157600-61161000	Enhancers	Primary hematopoietic stem cells	blood
12	chr3:61158000-61158600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr3:61158000-61158600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:61158000-61158600	Enhancers	Dnd41	blood
15	chr3:61158000-61158800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:61158000-61159600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:61158200-61158600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:61158200-61158800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:61158200-61158800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:61158200-61158800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:61158200-61159400	Enhancers	GM12878-XiMat	blood

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