Variant report

Variant	rs16849696
Chromosome Location	chr3:139739269-139739270
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:139738986..139741463-chr3:139766762..139768876,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12107091	0.95[EUR][1000 genomes]
rs12491613	0.84[JPT][hapmap]
rs12497205	1.00[ASW][hapmap]
rs1426027	0.84[JPT][hapmap]
rs1426028	0.84[JPT][hapmap]
rs1426034	0.84[JPT][hapmap]
rs16849630	0.84[JPT][hapmap]
rs16849640	0.84[JPT][hapmap]
rs16849687	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16849705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16849709	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.93[TSI][hapmap]
rs16849713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16849718	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16849739	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs16849740	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs16849742	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4629291	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[EUR][1000 genomes]
rs4683469	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs4683470	0.98[EUR][1000 genomes]
rs4683471	0.98[EUR][1000 genomes]
rs4683472	0.98[EUR][1000 genomes]
rs4683473	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4683474	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4683774	0.84[JPT][hapmap]
rs4683786	0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs4683787	0.98[EUR][1000 genomes]
rs4683788	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs4683789	0.86[ASN][1000 genomes]
rs4683792	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4683793	1.00[ASW][hapmap]
rs57980652	0.96[EUR][1000 genomes]
rs72981830	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72981832	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72981851	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72981859	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72981861	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72981862	0.98[EUR][1000 genomes]
rs72981866	0.98[EUR][1000 genomes]
rs72981889	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9917657	0.89[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	nsv1003154	chr3:139060841-139788752	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536729	chr3:139060841-139788752	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv916193	chr3:139187767-139821526	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv530058	chr3:139243971-139814419	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv998423	chr3:139526446-139947336	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv829738	chr3:139670836-139851945	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv877545	chr3:139738645-139821310	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139714400-139741200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:139732400-139741200	Weak transcription	Fetal Brain Female	brain
3	chr3:139732400-139742600	Weak transcription	HSMMtube	muscle
4	chr3:139732800-139740200	Weak transcription	Brain Angular Gyrus	brain
5	chr3:139736000-139741800	Weak transcription	Spleen	Spleen
6	chr3:139737200-139739600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:139737600-139740800	Weak transcription	Ovary	ovary
8	chr3:139738600-139743600	Enhancers	Brain Hippocampus Middle	brain
9	chr3:139738800-139739600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:139738800-139742000	Weak transcription	Aorta	Aorta
11	chr3:139738800-139743200	Enhancers	Brain Substantia Nigra	brain
12	chr3:139739000-139740400	Weak transcription	Brain Anterior Caudate	brain
13	chr3:139739200-139739400	Enhancers	Brain Cingulate Gyrus	brain
14	chr3:139739200-139739400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:139739200-139739400	Enhancers	Fetal Brain Male	brain
16	chr3:139739200-139739600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr3:139739200-139743600	Enhancers	Brain Inferior Temporal Lobe	brain

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