Variant report

Variant	rs4889500
Chromosome Location	chr16:30724070-30724071
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30723210..30725779-chr16:30736368..30738162,2	MCF-7	breast:
2	chr16:30723735..30725867-chr16:30757899..30759500,2	MCF-7	breast:
3	chr16:30723897..30726651-chr16:30727280..30729745,2	MCF-7	breast:
4	chr16:30707422..30715768-chr16:30721242..30729414,24	MCF-7	breast:
5	chr16:30708760..30712474-chr16:30717976..30728042,17	K562	blood:
6	chr16:30723336..30725155-chr16:30759046..30761050,2	MCF-7	breast:
7	chr16:30693128..30694659-chr16:30721869..30724153,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000080603	Chromatin interaction
ENSG00000222287	Chromatin interaction
ENSG00000156873	Chromatin interaction
ENSG00000261840	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10782000	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs11150594	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11150595	0.87[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]
rs11648654	1.00[AMR][1000 genomes]
rs12596375	0.87[ASW][hapmap];1.00[AMR][1000 genomes]
rs12596394	1.00[AMR][1000 genomes]
rs12598056	1.00[AMR][1000 genomes]
rs12931844	1.00[AMR][1000 genomes]
rs12933849	1.00[AMR][1000 genomes]
rs1530203	0.87[ASW][hapmap];0.83[YRI][hapmap]
rs1550477	0.87[ASW][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs2053426	1.00[AMR][1000 genomes]
rs2099754	0.87[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2099755	0.87[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919430	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919431	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919432	1.00[LWK][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919433	1.00[AMR][1000 genomes]
rs2972804	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972807	0.94[AFR][1000 genomes]
rs2972808	0.81[LWK][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes]
rs2972809	0.81[LWK][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes]
rs2972815	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4617878	0.87[ASW][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889488	1.00[AMR][1000 genomes]
rs4889494	1.00[AMR][1000 genomes]
rs4889501	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889503	1.00[LWK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889504	0.87[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889505	1.00[LWK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889508	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889509	0.87[ASW][hapmap];1.00[YRI][hapmap]
rs4889510	1.00[AMR][1000 genomes]
rs4889528	1.00[AMR][1000 genomes]
rs55635617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56038936	1.00[AMR][1000 genomes]
rs56209507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57225118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57643871	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57877247	1.00[AMR][1000 genomes]
rs6565198	0.83[YRI][hapmap]
rs6565203	1.00[AMR][1000 genomes]
rs6565204	1.00[AMR][1000 genomes]
rs6565205	1.00[AMR][1000 genomes]
rs6565208	1.00[ASW][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs6565209	1.00[AMR][1000 genomes]
rs6565210	1.00[AMR][1000 genomes]
rs7185136	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7188077	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7193412	1.00[AMR][1000 genomes]
rs7194763	1.00[AMR][1000 genomes]
rs7195583	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7195612	0.86[ASW][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs73524581	1.00[AMR][1000 genomes]
rs73524584	1.00[AMR][1000 genomes]
rs73536457	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536488	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045484	0.87[ASW][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs8045550	1.00[AMR][1000 genomes]
rs8045624	0.87[ASW][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8046609	1.00[AMR][1000 genomes]
rs8047743	1.00[AMR][1000 genomes]
rs8048656	1.00[LWK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs8049589	1.00[AMR][1000 genomes]
rs8050578	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs8058475	1.00[AMR][1000 genomes]
rs893926	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs893927	0.87[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9921630	0.87[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9934046	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941201	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9941300	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
9	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
10	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30711400-30751400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:30711400-30757000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr16:30711600-30724600	Strong transcription	Esophagus	oesophagus
4	chr16:30711600-30727200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:30711600-30735600	Strong transcription	Duodenum Mucosa	Duodenum
6	chr16:30711600-30735800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:30711600-30736000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr16:30711600-30738000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:30711600-30738800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr16:30711600-30750800	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr16:30711600-30752000	Strong transcription	Fetal Lung	lung
12	chr16:30711600-30756200	Strong transcription	Thymus	Thymus
13	chr16:30711800-30724400	Strong transcription	Brain Cingulate Gyrus	brain
14	chr16:30711800-30724800	Strong transcription	Osteobl	bone
15	chr16:30711800-30725800	Strong transcription	Primary T cells from cord blood	blood
16	chr16:30711800-30732200	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr16:30711800-30737000	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr16:30711800-30738400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr16:30711800-30738400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:30711800-30739000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr16:30711800-30739200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr16:30711800-30739600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr16:30711800-30757000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr16:30711800-30757200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:30712000-30726000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr16:30712000-30736800	Strong transcription	Fetal Brain Female	brain
27	chr16:30712000-30737200	Strong transcription	HSMMtube	muscle
28	chr16:30712000-30756600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr16:30712200-30724200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr16:30712200-30724400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr16:30712200-30724400	Strong transcription	Pancreas	Pancrea
32	chr16:30712200-30724400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr16:30712200-30724400	Strong transcription	NHEK	skin
34	chr16:30712200-30724600	Strong transcription	Brain Angular Gyrus	brain
35	chr16:30712200-30724600	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr16:30712200-30724600	Weak transcription	Right Atrium	heart
37	chr16:30712200-30724600	Strong transcription	HUVEC	blood vessel
38	chr16:30712200-30724800	Strong transcription	Placenta	Placenta
39	chr16:30712200-30725200	Strong transcription	Colonic Mucosa	Colon
40	chr16:30712200-30725400	Strong transcription	Ovary	ovary
41	chr16:30712200-30725800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr16:30712200-30726000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr16:30712200-30726000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr16:30712200-30726400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr16:30712200-30726600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr16:30712200-30727000	Strong transcription	Adipose Nuclei	Adipose
47	chr16:30712200-30727200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr16:30712200-30729400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:30712200-30733400	Strong transcription	Spleen	Spleen
50	chr16:30712200-30735400	Strong transcription	Rectal Mucosa Donor 29	rectum

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