Variant report

Variant	rs12596375
Chromosome Location	chr16:30757455-30757456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30669052..30671027-chr16:30755746..30757539,2	MCF-7	breast:
2	chr16:30757305..30759426-chr16:30951863..30953472,2	MCF-7	breast:
3	chr16:30707181..30712037-chr16:30757231..30762842,12	MCF-7	breast:
4	chr16:30756860..30759445-chr16:30904243..30907032,3	K562	blood:
5	chr16:30749452..30756439-chr16:30756844..30761929,14	K562	blood:
6	chr16:30671281..30672965-chr16:30757112..30759562,2	MCF-7	breast:
7	chr16:30738148..30741438-chr16:30755814..30759116,3	K562	blood:

Variant related genes	Relation type
ENSG00000099385	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000260899	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000211591	Chromatin interaction
ENSG00000262721	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10782000	1.00[AMR][1000 genomes]
rs11150594	1.00[AMR][1000 genomes]
rs11150595	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs11538956	0.87[MKK][hapmap]
rs11556801	1.00[CHD][hapmap]
rs11648654	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	1.00[ASW][hapmap]
rs1550477	1.00[ASW][hapmap];1.00[LWK][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2053426	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2099754	1.00[ASW][hapmap];0.95[LWK][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2099755	1.00[ASW][hapmap];1.00[LWK][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919427	1.00[ASW][hapmap]
rs2919429	0.87[ASW][hapmap]
rs2919430	1.00[AMR][1000 genomes]
rs2919431	1.00[AMR][1000 genomes]
rs2919432	1.00[AMR][1000 genomes]
rs2919433	1.00[AMR][1000 genomes]
rs2972804	1.00[AMR][1000 genomes]
rs2972815	1.00[AMR][1000 genomes]
rs4617878	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[AMR][1000 genomes]
rs4889488	1.00[AMR][1000 genomes]
rs4889494	1.00[AMR][1000 genomes]
rs4889500	0.87[ASW][hapmap];1.00[AMR][1000 genomes]
rs4889501	1.00[AMR][1000 genomes]
rs4889503	1.00[AMR][1000 genomes]
rs4889504	1.00[ASW][hapmap];1.00[LWK][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889505	1.00[AMR][1000 genomes]
rs4889508	1.00[AMR][1000 genomes]
rs4889509	1.00[ASW][hapmap];0.90[LWK][hapmap]
rs4889510	1.00[AMR][1000 genomes]
rs4889528	1.00[AMR][1000 genomes]
rs55635617	1.00[AMR][1000 genomes]
rs56038936	1.00[AMR][1000 genomes]
rs56209507	1.00[AMR][1000 genomes]
rs57225118	1.00[AMR][1000 genomes]
rs57643871	1.00[AMR][1000 genomes]
rs57877247	1.00[AMR][1000 genomes]
rs6565203	1.00[AMR][1000 genomes]
rs6565204	1.00[AMR][1000 genomes]
rs6565205	1.00[AMR][1000 genomes]
rs6565208	0.87[ASW][hapmap];1.00[AMR][1000 genomes]
rs6565209	1.00[AMR][1000 genomes]
rs6565210	1.00[AMR][1000 genomes]
rs7185136	0.87[ASW][hapmap];1.00[AMR][1000 genomes]
rs7188077	1.00[ASW][hapmap];1.00[LWK][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7193412	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7194763	1.00[AMR][1000 genomes]
rs7195583	0.87[ASW][hapmap];1.00[AMR][1000 genomes]
rs7195612	1.00[AMR][1000 genomes]
rs7203801	1.00[CHD][hapmap]
rs73524581	1.00[AMR][1000 genomes]
rs73524584	1.00[AMR][1000 genomes]
rs73536457	1.00[AMR][1000 genomes]
rs73536466	1.00[AMR][1000 genomes]
rs73536474	1.00[AMR][1000 genomes]
rs73536488	1.00[AMR][1000 genomes]
rs73536498	1.00[AMR][1000 genomes]
rs73536499	1.00[AMR][1000 genomes]
rs8045484	1.00[ASW][hapmap];0.95[LWK][hapmap]
rs8045550	1.00[AMR][1000 genomes]
rs8045624	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[AMR][1000 genomes]
rs8046609	1.00[AMR][1000 genomes]
rs8047743	1.00[AMR][1000 genomes]
rs8048656	1.00[AMR][1000 genomes]
rs8049589	1.00[AMR][1000 genomes]
rs8050578	1.00[AMR][1000 genomes]
rs8052839	1.00[CHD][hapmap];0.87[MKK][hapmap]
rs8056105	0.81[AFR][1000 genomes]
rs8058475	1.00[AMR][1000 genomes]
rs893926	1.00[AMR][1000 genomes]
rs893927	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[AMR][1000 genomes]
rs9921630	1.00[ASW][hapmap];1.00[LWK][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9925349	1.00[CHD][hapmap];0.88[MKK][hapmap]
rs9934046	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941201	1.00[AMR][1000 genomes]
rs9941300	0.87[ASW][hapmap];0.80[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30712200-30758800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:30741000-30759000	Weak transcription	Fetal Brain Male	brain
3	chr16:30748000-30758800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:30749400-30758600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr16:30749400-30758800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr16:30749800-30758600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:30749800-30759000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr16:30750400-30758800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr16:30750600-30759000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:30751000-30759000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr16:30751000-30759000	Weak transcription	Small Intestine	intestine
12	chr16:30751200-30758800	Weak transcription	Psoas Muscle	Psoas
13	chr16:30751200-30759000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:30751400-30758800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr16:30752400-30758800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr16:30752400-30759000	Weak transcription	Fetal Kidney	kidney
17	chr16:30753200-30758800	Weak transcription	Right Atrium	heart
18	chr16:30753200-30759000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr16:30753200-30759000	Weak transcription	Aorta	Aorta
20	chr16:30753400-30758600	Strong transcription	NHLF	lung
21	chr16:30753400-30759200	Weak transcription	Gastric	stomach
22	chr16:30753600-30758800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr16:30753600-30758800	Weak transcription	Brain Angular Gyrus	brain
24	chr16:30753600-30758800	Weak transcription	Colon Smooth Muscle	Colon
25	chr16:30753800-30758800	Weak transcription	Primary B cells from cord blood	blood
26	chr16:30753800-30758800	Weak transcription	Fetal Heart	heart
27	chr16:30753800-30759000	Weak transcription	Right Ventricle	heart
28	chr16:30754000-30758800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr16:30754000-30758800	Weak transcription	Pancreas	Pancrea
30	chr16:30755600-30758800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr16:30755600-30759000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr16:30755600-30759200	Weak transcription	Ovary	ovary
33	chr16:30755800-30758200	Weak transcription	Colonic Mucosa	Colon
34	chr16:30755800-30758600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr16:30755800-30758600	Weak transcription	Fetal Intestine Small	intestine
36	chr16:30755800-30758800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:30755800-30758800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr16:30755800-30758800	Weak transcription	Spleen	Spleen
39	chr16:30755800-30759000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:30755800-30759000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr16:30755800-30759000	Weak transcription	Lung	lung
42	chr16:30755800-30759000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr16:30756200-30758800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr16:30756200-30758800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:30756200-30758800	Weak transcription	Thymus	Thymus
46	chr16:30756600-30758800	Weak transcription	HUVEC	blood vessel
47	chr16:30756600-30759000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr16:30756600-30759000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr16:30756600-30759000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr16:30756800-30758000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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