Variant report

Variant	rs11644513
Chromosome Location	chr16:82868852-82868853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11150494	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11150495	0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1154678	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1155971	0.81[JPT][hapmap]
rs1155972	0.81[JPT][hapmap]
rs11645173	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1993765	1.00[CEU][hapmap];0.84[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2061627	0.93[EUR][1000 genomes]
rs4288987	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4354927	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4517791	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58602850	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71382851	0.97[EUR][1000 genomes]
rs72807823	0.86[EUR][1000 genomes]
rs72807825	0.87[EUR][1000 genomes]
rs918657	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs918658	0.81[CEU][hapmap];0.85[JPT][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9319575	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs9921831	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9922081	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9929788	0.87[JPT][hapmap]
rs9932406	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9933518	0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9934411	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9934566	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9934808	0.87[JPT][hapmap]
rs9934819	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9938031	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs9940251	0.92[CEU][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv573379	chr16:82713551-82887631	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv907027	chr16:82830121-82871350	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2830385	chr16:82841335-82950413	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82833000-82873600	Weak transcription	HMEC	breast
2	chr16:82848200-82898200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:82851000-82869200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:82856800-82876200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:82858400-82869000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:82863200-82892800	Weak transcription	HSMMtube	muscle
7	chr16:82864000-82869800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr16:82865000-82870200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:82865400-82869200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:82866200-82869400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:82866200-82869600	Enhancers	NH-A	brain
12	chr16:82866400-82869400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr16:82866600-82869600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr16:82866600-82869600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr16:82866600-82869800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr16:82866800-82869200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr16:82866800-82869600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr16:82866800-82869800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr16:82866800-82878600	Weak transcription	Aorta	Aorta
20	chr16:82867000-82869400	Enhancers	Right Ventricle	heart
21	chr16:82867000-82869600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:82867200-82869800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr16:82867200-82870200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr16:82867400-82872200	Weak transcription	Psoas Muscle	Psoas
25	chr16:82867400-82874600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr16:82867600-82869000	Weak transcription	NHDF-Ad	bronchial
27	chr16:82868000-82869200	Weak transcription	Osteobl	bone
28	chr16:82868200-82869600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr16:82868200-82878200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr16:82868400-82869200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr16:82868400-82869200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:82868400-82874600	Weak transcription	Left Ventricle	heart
33	chr16:82868400-82876000	Weak transcription	HSMM	muscle
34	chr16:82868400-82878800	Weak transcription	Right Atrium	heart
35	chr16:82868600-82869600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr16:82868800-82869000	Enhancers	Fetal Muscle Leg	muscle
37	chr16:82868800-82869400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr16:82868800-82869800	Enhancers	NHEK	skin

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