Variant report

Variant	rs74030928
Chromosome Location	chr16:82684165-82684166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82680839..82682470-chr16:82683350..82685003,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16957960	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16958020	0.80[AFR][1000 genomes]
rs56225555	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60403193	0.95[AFR][1000 genomes]
rs60477134	0.91[AFR][1000 genomes]
rs74030910	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030925	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048888	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8051643	0.98[AFR][1000 genomes]
rs8061983	0.87[AFR][1000 genomes]
rs8062352	0.83[AFR][1000 genomes]
rs8062745	0.88[AFR][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	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1065896	chr16:82213517-82731994	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv833305	chr16:82563888-82722084	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1059718	chr16:82564054-82810003	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv907022	chr16:82680391-82718030	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv907023	chr16:82680391-82751932	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region miRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82672200-82685800	Weak transcription	HSMMtube	muscle
2	chr16:82673800-82685600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr16:82678000-82685600	Weak transcription	Fetal Muscle Leg	muscle
4	chr16:82678000-82687000	Weak transcription	Lung	lung
5	chr16:82678400-82687000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:82679000-82685200	Weak transcription	Osteobl	bone
7	chr16:82679000-82685400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:82679200-82686800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr16:82679400-82686800	Weak transcription	Fetal Heart	heart
10	chr16:82679600-82685200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr16:82679800-82687200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr16:82681000-82685800	Weak transcription	Right Ventricle	heart
13	chr16:82681200-82687000	Weak transcription	Colonic Mucosa	Colon
14	chr16:82682200-82687800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr16:82682800-82684400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr16:82682800-82689400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr16:82683000-82684400	Enhancers	Left Ventricle	heart
18	chr16:82683000-82685200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr16:82683000-82685400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr16:82683000-82690000	Enhancers	Psoas Muscle	Psoas
21	chr16:82683000-82694200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr16:82683000-82694800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr16:82683200-82684400	Enhancers	NH-A	brain
24	chr16:82683200-82685400	Weak transcription	NHDF-Ad	bronchial
25	chr16:82683200-82692200	Enhancers	Thymus	Thymus
26	chr16:82683200-82695200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr16:82683400-82684600	Enhancers	Aorta	Aorta
28	chr16:82683400-82685000	Weak transcription	Small Intestine	intestine
29	chr16:82683400-82685200	Enhancers	Duodenum Mucosa	Duodenum
30	chr16:82683400-82685600	Weak transcription	HUVEC	blood vessel
31	chr16:82683400-82691800	Enhancers	Primary T cells from cord blood	blood
32	chr16:82683600-82684200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr16:82683600-82684400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:82683600-82684800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:82683600-82685200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr16:82683600-82685200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr16:82683600-82685200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr16:82683600-82685200	Weak transcription	HSMM	muscle
39	chr16:82683600-82685600	Weak transcription	NHLF	lung
40	chr16:82683600-82686200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr16:82683600-82690400	Enhancers	Fetal Thymus	thymus
42	chr16:82683600-82694200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr16:82683800-82684400	Enhancers	GM12878-XiMat	blood
44	chr16:82683800-82684800	Weak transcription	HMEC	breast
45	chr16:82683800-82685200	Weak transcription	NHEK	skin
46	chr16:82683800-82685800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr16:82683800-82686800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr16:82684000-82684600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr16:82684000-82685200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr16:82684000-82685200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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