Variant report

Variant	rs73980142
Chromosome Location	chr17:16376472-16376473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16345715..16347819-chr17:16375734..16378400,2	MCF-7	breast:
2	chr17:16344635..16348382-chr17:16375517..16378803,3	K562	blood:
3	chr17:16373881..16376567-chr17:16384213..16385977,2	MCF-7	breast:
4	chr17:16376121..16378566-chr17:16417128..16420037,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73980158	0.84[AFR][1000 genomes]
rs73980164	0.82[AFR][1000 genomes]
rs73980166	0.82[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	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv1065254	chr17:16252880-16389930	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
9	nsv428668	chr17:16265210-16455285	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
10	nsv1063941	chr17:16357086-16424098	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16352600-16380800	Weak transcription	Aorta	Aorta
2	chr17:16356800-16377600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr17:16360600-16377200	Weak transcription	Thymus	Thymus
4	chr17:16363800-16377000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr17:16363800-16377600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:16365000-16377200	Weak transcription	Fetal Thymus	thymus
7	chr17:16365000-16377400	Weak transcription	NHLF	lung
8	chr17:16367400-16376600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr17:16367400-16376600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr17:16367400-16380600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:16368600-16380600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr17:16369000-16380400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr17:16369800-16376600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr17:16369800-16377400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:16369800-16377400	Weak transcription	HSMM	muscle
16	chr17:16369800-16380400	Weak transcription	Ovary	ovary
17	chr17:16370000-16376600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr17:16370000-16376600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr17:16370800-16380600	Weak transcription	Pancreas	Pancrea
20	chr17:16371200-16380800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr17:16373000-16388800	Weak transcription	Gastric	stomach
22	chr17:16373200-16380600	Weak transcription	Right Ventricle	heart
23	chr17:16373400-16380400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:16373400-16386000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr17:16374000-16376600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr17:16374000-16380400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr17:16374200-16379800	Weak transcription	NHDF-Ad	bronchial
28	chr17:16374200-16380400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr17:16374200-16380400	Weak transcription	Stomach Mucosa	stomach
30	chr17:16374200-16381800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr17:16374200-16387800	Weak transcription	Brain Angular Gyrus	brain
32	chr17:16374400-16376800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:16374400-16377000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr17:16374400-16387800	Weak transcription	Brain Germinal Matrix	brain
35	chr17:16374600-16377400	Weak transcription	Brain Substantia Nigra	brain
36	chr17:16374600-16380400	Weak transcription	Adipose Nuclei	Adipose
37	chr17:16374600-16387800	Weak transcription	Brain Hippocampus Middle	brain
38	chr17:16374800-16376800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr17:16374800-16379000	Enhancers	Placenta	Placenta
40	chr17:16374800-16381600	Weak transcription	Colonic Mucosa	Colon
41	chr17:16374800-16386000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr17:16374800-16387800	Weak transcription	Brain Anterior Caudate	brain
43	chr17:16375000-16376600	Weak transcription	Fetal Intestine Large	intestine
44	chr17:16375000-16377200	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr17:16375000-16377400	Weak transcription	HSMMtube	muscle
46	chr17:16375000-16378000	Enhancers	Fetal Muscle Leg	muscle
47	chr17:16375000-16386200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr17:16375200-16390400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr17:16375400-16376800	Enhancers	Fetal Lung	lung
50	chr17:16375400-16378200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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