Variant report

Variant	rs7195612
Chromosome Location	chr16:30854357-30854358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30816905..30818572-chr16:30853615..30856122,3	MCF-7	breast:
2	chr16:30852383..30857550-chr16:30903226..30907959,5	MCF-7	breast:
3	chr16:30853703..30855792-chr16:30904679..30906363,2	K562	blood:

Variant related genes	Relation type
ENSG00000211591	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000262721	Chromatin interaction
ENSG00000150281	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10782000	1.00[AMR][1000 genomes]
rs11150594	1.00[AMR][1000 genomes]
rs11150595	0.83[YRI][hapmap]
rs11648654	1.00[AMR][1000 genomes]
rs12596375	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]
rs1550477	1.00[AMR][1000 genomes]
rs2053426	1.00[AMR][1000 genomes]
rs2099754	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2099755	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919430	1.00[AMR][1000 genomes]
rs2919431	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919432	0.84[ASW][hapmap];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[AMR][1000 genomes]
rs4889488	1.00[AMR][1000 genomes]
rs4889494	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889500	0.86[ASW][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889501	1.00[AMR][1000 genomes]
rs4889503	0.84[ASW][hapmap];1.00[AMR][1000 genomes]
rs4889504	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889505	0.84[ASW][hapmap];1.00[AMR][1000 genomes]
rs4889508	1.00[AMR][1000 genomes]
rs4889509	0.83[YRI][hapmap]
rs4889510	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889511	0.89[AFR][1000 genomes]
rs4889528	1.00[AFR][1000 genomes];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	0.86[ASW][hapmap];0.92[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565209	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565210	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565211	0.92[AFR][1000 genomes]
rs7185136	0.86[ASW][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs7188077	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs7193412	1.00[AMR][1000 genomes]
rs7194763	1.00[AMR][1000 genomes]
rs7195583	0.86[ASW][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs73524581	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524584	0.86[AFR][1000 genomes];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	0.83[YRI][hapmap]
rs8045550	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045624	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs8046609	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8047743	1.00[AMR][1000 genomes]
rs8048656	0.84[ASW][hapmap];1.00[AMR][1000 genomes]
rs8049589	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050578	1.00[AMR][1000 genomes]
rs8058475	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs893926	1.00[AMR][1000 genomes]
rs893927	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs9921630	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs9934046	1.00[AMR][1000 genomes]
rs9941201	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs9941300	0.86[ASW][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
4	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
5	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
6	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
7	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
8	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
9	nsv869652	chr16:30799471-30951038	Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
10	nsv1060384	chr16:30802415-30878838	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv1059633	chr16:30803099-30867916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv833189	chr16:30819708-30960795	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
13	nsv833190	chr16:30845051-31007863	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30840200-30856400	Weak transcription	Aorta	Aorta
2	chr16:30841000-30856200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr16:30841000-30858200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:30841400-30856200	Weak transcription	Left Ventricle	heart
5	chr16:30842600-30856200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr16:30844200-30855800	Weak transcription	Fetal Kidney	kidney
7	chr16:30844200-30856200	Weak transcription	Primary T cells from cord blood	blood
8	chr16:30844200-30856400	Weak transcription	Gastric	stomach
9	chr16:30844400-30856000	Weak transcription	Colon Smooth Muscle	Colon
10	chr16:30845600-30856200	Weak transcription	Adipose Nuclei	Adipose
11	chr16:30845600-30856200	Weak transcription	Brain Anterior Caudate	brain
12	chr16:30845800-30884800	Weak transcription	Brain Germinal Matrix	brain
13	chr16:30846200-30856200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr16:30846200-30856400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:30846200-30856400	Weak transcription	Ovary	ovary
16	chr16:30846200-30863000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:30846400-30856200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:30846400-30856200	Weak transcription	Brain Hippocampus Middle	brain
19	chr16:30846400-30856400	Weak transcription	Lung	lung
20	chr16:30846400-30883400	Weak transcription	Fetal Brain Female	brain
21	chr16:30846600-30856200	Weak transcription	Fetal Muscle Leg	muscle
22	chr16:30846600-30856400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr16:30846800-30856200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr16:30846800-30885600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr16:30847000-30856200	Weak transcription	Fetal Stomach	stomach
26	chr16:30849400-30856200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:30849600-30856200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr16:30849800-30855600	Weak transcription	K562	blood
29	chr16:30849800-30856200	Weak transcription	Brain Angular Gyrus	brain
30	chr16:30851000-30856200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr16:30851000-30856200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr16:30851000-30856400	Weak transcription	Esophagus	oesophagus
33	chr16:30851200-30856000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:30851200-30856200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr16:30851200-30856400	Weak transcription	Fetal Lung	lung
36	chr16:30851400-30855800	Weak transcription	A549	lung
37	chr16:30851400-30856000	Weak transcription	Liver	Liver
38	chr16:30851400-30856200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr16:30851400-30856200	Weak transcription	Brain Substantia Nigra	brain
40	chr16:30851400-30856200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr16:30851400-30856200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr16:30851600-30855800	Weak transcription	Hela-S3	cervix
43	chr16:30852000-30854400	Weak transcription	HepG2	liver
44	chr16:30852400-30855800	Weak transcription	Fetal Intestine Small	intestine
45	chr16:30852400-30855800	Weak transcription	Stomach Mucosa	stomach
46	chr16:30852600-30855800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr16:30852600-30856200	Weak transcription	Fetal Intestine Large	intestine

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