Variant report

Variant	rs9921696
Chromosome Location	chr16:70454131-70454132
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70453838..70456062-chr16:70463491..70466263,2	MCF-7	breast:
2	chr16:70450061..70452140-chr16:70453514..70455458,2	MCF-7	breast:
3	chr16:70411659..70418028-chr16:70451032..70456707,7	MCF-7	breast:
4	chr16:70441229..70447070-chr16:70453059..70456907,6	K562	blood:

Variant related genes	Relation type
ENSG00000260111	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11643373	0.80[LWK][hapmap];0.96[YRI][hapmap]
rs11648402	0.90[LWK][hapmap];0.96[YRI][hapmap]
rs11863394	1.00[EUR][1000 genomes]
rs12102388	1.00[AMR][1000 genomes]
rs13330945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13332431	1.00[TSI][hapmap]
rs13334712	0.87[AMR][1000 genomes]
rs13337689	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13338441	1.00[EUR][1000 genomes]
rs13339561	1.00[EUR][1000 genomes]
rs13339593	1.00[EUR][1000 genomes]
rs13339643	1.00[EUR][1000 genomes]
rs16970240	0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap]
rs16970253	0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap]
rs16970260	0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap]
rs17878662	1.00[EUR][1000 genomes]
rs17879275	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17881316	0.90[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17886111	1.00[EUR][1000 genomes]
rs1979594	0.87[AMR][1000 genomes]
rs2168606	0.90[LWK][hapmap];0.93[YRI][hapmap]
rs2303793	0.93[YRI][hapmap]
rs28613466	1.00[AMR][1000 genomes]
rs3852695	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs57301833	0.87[AMR][1000 genomes]
rs60575688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499320	0.93[YRI][hapmap]
rs6499327	0.85[YRI][hapmap]
rs7188297	1.00[EUR][1000 genomes]
rs7188474	1.00[EUR][1000 genomes]
rs7188808	1.00[EUR][1000 genomes]
rs7192936	1.00[EUR][1000 genomes]
rs7193228	0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap]
rs7193598	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs7196773	1.00[EUR][1000 genomes]
rs7199312	1.00[EUR][1000 genomes]
rs7200034	0.93[ASW][hapmap];1.00[MEX][hapmap]
rs7200891	0.87[AMR][1000 genomes]
rs7201750	0.86[LWK][hapmap];0.93[YRI][hapmap]
rs7202133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7919	0.86[LWK][hapmap];0.83[YRI][hapmap]
rs8045340	0.87[AMR][1000 genomes]
rs8047189	1.00[EUR][1000 genomes]
rs8057327	0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap]
rs8057732	0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap]
rs8057766	0.93[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs8058754	0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap]
rs8059200	1.00[EUR][1000 genomes]
rs8061243	1.00[EUR][1000 genomes]
rs8061431	1.00[EUR][1000 genomes]
rs8062178	0.92[YRI][hapmap]
rs8062414	1.00[EUR][1000 genomes]
rs8062794	1.00[EUR][1000 genomes]
rs8063990	0.96[YRI][hapmap]
rs891138	0.86[YRI][hapmap];0.87[AMR][1000 genomes]
rs9922969	1.00[EUR][1000 genomes]
rs9923656	1.00[EUR][1000 genomes]
rs9924352	0.93[ASW][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes]
rs9925510	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926435	1.00[EUR][1000 genomes]
rs9928617	0.87[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap]
rs9929182	1.00[EUR][1000 genomes]
rs9929354	0.87[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap]
rs9933510	1.00[EUR][1000 genomes]
rs9934707	0.82[YRI][hapmap]
rs9940353	0.87[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap]
rs9940592	1.00[EUR][1000 genomes]
rs9940654	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70432800-70454800	Weak transcription	Pancreas	Pancrea
2	chr16:70432800-70457000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:70433200-70461600	Weak transcription	Aorta	Aorta
4	chr16:70433400-70461600	Weak transcription	Brain Substantia Nigra	brain
5	chr16:70433600-70461600	Weak transcription	Colon Smooth Muscle	Colon
6	chr16:70438400-70461600	Weak transcription	HSMM	muscle
7	chr16:70438600-70461600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:70438600-70461600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr16:70439200-70454800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:70439200-70458600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:70441800-70461600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr16:70442200-70458600	Weak transcription	NH-A	brain
13	chr16:70442400-70454200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr16:70442600-70454200	Weak transcription	Ovary	ovary
15	chr16:70445000-70461800	Weak transcription	Brain Germinal Matrix	brain
16	chr16:70445200-70461600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:70446200-70456800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:70446200-70457400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:70446400-70461600	Weak transcription	HSMMtube	muscle
20	chr16:70446600-70458600	Weak transcription	Osteobl	bone
21	chr16:70446800-70458600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr16:70448000-70456800	Enhancers	Fetal Heart	heart
23	chr16:70448000-70458000	Enhancers	Placenta	Placenta
24	chr16:70448000-70464200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr16:70448200-70456200	Enhancers	Psoas Muscle	Psoas
26	chr16:70448400-70460800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr16:70448400-70461800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr16:70449200-70454200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr16:70449600-70457400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr16:70450000-70457200	Enhancers	Right Ventricle	heart
31	chr16:70450600-70454200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:70450600-70454400	Enhancers	Fetal Thymus	thymus
33	chr16:70450600-70454600	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr16:70450600-70455600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr16:70450600-70455800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr16:70450600-70456000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:70450600-70456400	Genic enhancers	Fetal Muscle Leg	muscle
38	chr16:70450600-70457200	Genic enhancers	Fetal Muscle Trunk	muscle
39	chr16:70450600-70457200	Enhancers	Left Ventricle	heart
40	chr16:70450600-70457400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:70451000-70454200	Enhancers	Primary hematopoietic stem cells	blood
42	chr16:70451000-70454200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:70451000-70457000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr16:70451200-70454200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr16:70451200-70454200	Enhancers	Thymus	Thymus
46	chr16:70451200-70454800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr16:70451400-70455400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr16:70451400-70455600	Enhancers	Brain Anterior Caudate	brain
49	chr16:70451400-70456000	Enhancers	Primary T cells fromperipheralblood	blood
50	chr16:70451800-70454600	Enhancers	Small Intestine	intestine

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