Variant report

Variant	rs34665959
Chromosome Location	chr16:80966593-80966594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80957146..80959233-chr16:80965352..80966876,2	MCF-7	breast:
2	chr16:80965383..80968097-chr16:81038708..81041560,2	MCF-7	breast:
3	chr16:80963937..80967554-chr16:80967751..80972204,4	K562	blood:
4	chr16:80966352..80966940-chr8:79864857..79865857,2	Hela-S3	cervix:
5	chr16:80966267..80966896-chr17:41393079..41393786,2	Hela-S3	cervix:
6	chr11:65272537..65273491-chr16:80966234..80966909,2	Hela-S3	cervix:
7	chr16:80964917..80968271-chr16:80970129..80973008,4	MCF-7	breast:
8	chr16:80950553..80953339-chr16:80965421..80967122,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166451	Chromatin interaction
ENSG00000103121	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10400999	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11643659	0.82[ASN][1000 genomes]
rs11643712	0.82[ASN][1000 genomes]
rs12149082	0.82[ASN][1000 genomes]
rs12149171	0.82[ASN][1000 genomes]
rs12149265	0.82[ASN][1000 genomes]
rs12149563	0.82[ASN][1000 genomes]
rs12918358	0.82[ASN][1000 genomes]
rs12918594	0.82[ASN][1000 genomes]
rs12919976	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12921215	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12924248	0.82[ASN][1000 genomes]
rs12924593	0.81[ASN][1000 genomes]
rs12929016	0.82[ASN][1000 genomes]
rs12932459	0.82[ASN][1000 genomes]
rs12932621	0.82[ASN][1000 genomes]
rs13339451	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2042210	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28833612	0.82[ASN][1000 genomes]
rs28854853	0.82[ASN][1000 genomes]
rs28880871	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34403022	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34446590	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34459368	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34468698	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34596948	0.82[ASN][1000 genomes]
rs34637450	0.81[ASN][1000 genomes]
rs34887743	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34947891	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35237667	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35538366	0.82[ASN][1000 genomes]
rs35740724	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35796288	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35814745	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35942415	0.81[ASN][1000 genomes]
rs4299169	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4595816	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57498103	0.81[ASN][1000 genomes]
rs57529305	0.81[ASN][1000 genomes]
rs57661849	0.90[ASN][1000 genomes]
rs58542234	0.82[ASN][1000 genomes]
rs61285351	0.81[ASN][1000 genomes]
rs6564806	0.81[ASN][1000 genomes]
rs6564807	0.81[ASN][1000 genomes]
rs6564808	0.81[ASN][1000 genomes]
rs66488266	0.81[ASN][1000 genomes]
rs66502225	0.82[ASN][1000 genomes]
rs66720187	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67022778	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67158280	0.81[ASN][1000 genomes]
rs67390427	0.82[ASN][1000 genomes]
rs67591455	0.81[ASN][1000 genomes]
rs67921132	0.93[EUR][1000 genomes]
rs68110542	0.81[ASN][1000 genomes]
rs716759	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs716885	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7185393	0.81[ASN][1000 genomes]
rs7185564	0.82[ASN][1000 genomes]
rs7186782	0.81[ASN][1000 genomes]
rs7186947	0.81[ASN][1000 genomes]
rs718957	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7198192	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7199497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7203109	0.82[ASN][1000 genomes]
rs7206440	0.82[ASN][1000 genomes]
rs72811887	0.83[EUR][1000 genomes]
rs72813706	0.82[ASN][1000 genomes]
rs728290	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8045229	0.82[ASN][1000 genomes]
rs8047125	0.82[ASN][1000 genomes]
rs8047733	0.82[ASN][1000 genomes]
rs8050318	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8050556	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8052361	0.83[EUR][1000 genomes]
rs8052374	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8053625	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8053941	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8056170	0.81[ASN][1000 genomes]
rs8056592	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8057127	0.81[ASN][1000 genomes]
rs8057147	0.81[ASN][1000 genomes]
rs8057881	0.81[ASN][1000 genomes]
rs8057989	0.81[ASN][1000 genomes]
rs8059981	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8060183	0.93[EUR][1000 genomes]
rs8061249	0.82[EUR][1000 genomes]
rs8061372	0.82[ASN][1000 genomes]
rs8061703	0.82[ASN][1000 genomes]
rs8062360	0.81[ASN][1000 genomes]
rs8062723	0.81[ASN][1000 genomes]
rs8062726	0.81[ASN][1000 genomes]
rs8062958	0.81[ASN][1000 genomes]
rs8063035	0.81[ASN][1000 genomes]
rs9673134	0.81[ASN][1000 genomes]
rs9673172	0.81[ASN][1000 genomes]
rs9673267	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9673283	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9673726	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9673849	0.81[ASN][1000 genomes]
rs9673979	0.81[ASN][1000 genomes]
rs9922528	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9924366	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9924383	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9924824	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9929546	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9934937	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9937254	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9940763	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv3451298	chr16:80696935-80997389	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv3350075	chr16:80696955-80997359	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv1058045	chr16:80918138-81048242	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv573303	chr16:80951306-80989859	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv1055598	chr16:80954876-80993734	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv1067066	chr16:80954876-80996272	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv1059905	chr16:80954876-80998523	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	esv2760441	chr16:80954888-80998523	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv457561	chr16:80955393-80989859	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	nsv457562	chr16:80955393-80989859	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
17	nsv573304	chr16:80955393-80989859	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
18	nsv471101	chr16:80955393-80989860	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
19	nsv520122	chr16:80955393-81001915	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
20	nsv907004	chr16:80958442-81001915	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
21	nsv1062711	chr16:80959475-80988790	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
22	nsv1067350	chr16:80959475-80996272	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
23	nsv1055411	chr16:80961660-80993734	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80965000-80966800	Active TSS	Hela-S3	cervix
2	chr16:80965400-80966600	Flanking Active TSS	HUVEC	blood vessel
3	chr16:80965600-80966600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:80965600-80966600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr16:80965600-80966600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:80965600-80966600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr16:80965600-80966600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr16:80965600-80966600	Active TSS	Colon Smooth Muscle	Colon
9	chr16:80965600-80966600	Active TSS	Duodenum Mucosa	Duodenum
10	chr16:80965600-80966600	Active TSS	Fetal Kidney	kidney
11	chr16:80965600-80966600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr16:80965600-80966600	Bivalent/Poised TSS	Fetal Stomach	stomach
13	chr16:80965600-80966600	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr16:80965600-80966800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr16:80965600-80966800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr16:80965600-80966800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr16:80965600-80966800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:80965600-80966800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr16:80965600-80966800	Active TSS	Brain Anterior Caudate	brain
20	chr16:80965600-80966800	Active TSS	Brain Hippocampus Middle	brain
21	chr16:80965600-80966800	Active TSS	Ovary	ovary
22	chr16:80965600-80966800	Active TSS	Psoas Muscle	Psoas
23	chr16:80965600-80966800	Active TSS	Rectal Smooth Muscle	rectum
24	chr16:80965600-80967000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr16:80965600-80967000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr16:80965600-80967000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr16:80965600-80967000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:80965600-80967000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr16:80965600-80967000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr16:80965600-80967000	Active TSS	Aorta	Aorta
31	chr16:80965600-80967000	Flanking Active TSS	Liver	Liver
32	chr16:80965600-80967000	Active TSS	Brain Cingulate Gyrus	brain
33	chr16:80965600-80967000	Active TSS	A549	lung
34	chr16:80965600-80967000	Active TSS	HSMM	muscle
35	chr16:80965600-80967000	Active TSS	NHLF	lung
36	chr16:80965800-80966600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr16:80965800-80966600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr16:80965800-80966600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr16:80965800-80966600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
40	chr16:80965800-80966600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:80965800-80966600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr16:80965800-80966600	Active TSS	Brain Substantia Nigra	brain
43	chr16:80965800-80966600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
44	chr16:80965800-80966600	Active TSS	Left Ventricle	heart
45	chr16:80965800-80966600	Active TSS	Pancreas	Pancrea
46	chr16:80965800-80966600	Flanking Bivalent TSS/Enh	Thymus	Thymus
47	chr16:80965800-80966600	Flanking Active TSS	HMEC	breast
48	chr16:80965800-80966800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr16:80965800-80966800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr16:80965800-80966800	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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