Variant report

Variant	rs73978817
Chromosome Location	chr17:16129795-16129796
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	chr17:16118757..16122338-chr17:16126613..16132237,5	MCF-7	breast:
2	chr17:16128076..16130079-chr17:16132114..16135046,2	K562	blood:

Variant related genes	Relation type
ENSG00000141027	Chromatin interaction
ENSG00000108474	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1073093	0.84[AMR][1000 genomes]
rs1073095	0.84[AMR][1000 genomes]
rs16959544	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16959547	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4500784	0.81[AMR][1000 genomes]
rs4792723	0.90[AMR][1000 genomes]
rs57825293	0.89[AMR][1000 genomes]
rs57843678	0.90[AMR][1000 genomes]
rs58475330	0.90[AMR][1000 genomes]
rs59172522	0.84[AMR][1000 genomes]
rs60374261	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6502495	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6502496	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7207630	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7207901	0.90[AMR][1000 genomes]
rs7208681	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7210264	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7211957	0.81[AMR][1000 genomes]
rs7212326	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7212874	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7215673	0.89[ASN][1000 genomes]
rs7218342	0.89[ASN][1000 genomes]
rs7219365	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7219665	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7219795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219810	0.89[ASN][1000 genomes]
rs7219980	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7220699	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7223409	0.90[AMR][1000 genomes]
rs7223807	0.89[ASN][1000 genomes]
rs7224575	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7225813	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7225926	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73981431	0.84[AMR][1000 genomes]
rs73981433	0.84[AMR][1000 genomes]
rs73981436	0.84[AMR][1000 genomes]
rs73981443	0.84[AMR][1000 genomes]
rs73981445	0.84[AMR][1000 genomes]
rs73981447	0.90[AMR][1000 genomes]
rs73981450	0.90[AMR][1000 genomes]
rs73981453	0.81[AMR][1000 genomes]
rs73981460	0.81[AMR][1000 genomes]
rs73981461	0.81[AMR][1000 genomes]
rs73981462	0.90[AMR][1000 genomes]
rs73981464	0.89[AMR][1000 genomes]
rs73981466	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73981467	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73981471	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73981477	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73981482	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs764984	0.89[ASN][1000 genomes]
rs8065649	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8067494	0.84[AMR][1000 genomes]
rs8077949	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8079698	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv522169	chr17:15923709-16147821	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv907715	chr17:16019978-16206540	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
7	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
8	nsv907718	chr17:16080849-16143709	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	nsv528263	chr17:16097430-16196996	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16121000-16163200	Weak transcription	Spleen	Spleen
2	chr17:16121200-16131000	Weak transcription	Gastric	stomach
3	chr17:16121200-16141400	Weak transcription	Brain Substantia Nigra	brain
4	chr17:16121200-16142800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:16121200-16157000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr17:16121200-16158800	Weak transcription	Left Ventricle	heart
7	chr17:16121200-16159800	Weak transcription	Lung	lung
8	chr17:16121200-16163000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr17:16121400-16130000	Weak transcription	Right Ventricle	heart
10	chr17:16121400-16132200	Weak transcription	HSMM	muscle
11	chr17:16121400-16132200	Weak transcription	NHLF	lung
12	chr17:16121400-16133000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr17:16121400-16133200	Weak transcription	Fetal Thymus	thymus
14	chr17:16121400-16137400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:16121400-16140200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr17:16121400-16140400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr17:16121400-16141400	Weak transcription	Colon Smooth Muscle	Colon
18	chr17:16121400-16158600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr17:16121400-16158800	Weak transcription	Fetal Muscle Leg	muscle
20	chr17:16121400-16159000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr17:16121400-16170600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr17:16121600-16132000	Weak transcription	NHDF-Ad	bronchial
23	chr17:16121600-16132800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr17:16121600-16137000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr17:16121600-16137600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr17:16121600-16139200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr17:16121600-16139400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr17:16121600-16143000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:16121600-16143000	Weak transcription	Fetal Lung	lung
30	chr17:16121600-16147000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:16121600-16150200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr17:16121600-16151800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr17:16121600-16158400	Weak transcription	Brain Hippocampus Middle	brain
34	chr17:16121600-16158600	Weak transcription	Brain Germinal Matrix	brain
35	chr17:16121800-16132000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr17:16121800-16132600	Weak transcription	HUVEC	blood vessel
37	chr17:16121800-16132800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr17:16121800-16132800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr17:16121800-16132800	Weak transcription	NH-A	brain
40	chr17:16121800-16132800	Weak transcription	Osteobl	bone
41	chr17:16121800-16134000	Weak transcription	Fetal Intestine Large	intestine
42	chr17:16121800-16134200	Weak transcription	Fetal Kidney	kidney
43	chr17:16121800-16137000	Weak transcription	HMEC	breast
44	chr17:16121800-16139000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr17:16121800-16139200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr17:16121800-16146600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr17:16121800-16150200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr17:16121800-16153600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:16121800-16158200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr17:16121800-16158400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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