Variant report

Variant	rs73978594
Chromosome Location	chr17:15911933-15911934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:15910738..15912780-chr17:15917922..15919655,2	K562	blood:
2	chr17:15911381..15914344-chr17:15917325..15919916,2	MCF-7	breast:
3	chr17:15904178..15905978-chr17:15910048..15912649,2	K562	blood:
4	chr17:15911426..15914074-chr17:15914828..15917002,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1073093	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1073094	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1073095	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11078322	0.85[EUR][1000 genomes]
rs11554356	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16959491	0.83[ASN][1000 genomes]
rs16959521	0.85[EUR][1000 genomes]
rs17715109	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3744328	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3760295	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3760296	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4791659	0.85[EUR][1000 genomes]
rs4792714	0.85[EUR][1000 genomes]
rs55978925	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56054575	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56190835	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56195102	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56258621	0.85[EUR][1000 genomes]
rs56375441	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56733317	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57825293	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58883023	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59172522	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59665399	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59749475	0.85[EUR][1000 genomes]
rs60011951	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60198485	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61352879	0.93[EUR][1000 genomes]
rs61365058	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61530520	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62073589	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6502484	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502486	0.85[EUR][1000 genomes]
rs6502487	0.85[EUR][1000 genomes]
rs7207901	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7212804	0.85[EUR][1000 genomes]
rs7213125	0.85[EUR][1000 genomes]
rs7218152	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7218471	0.92[ASN][1000 genomes]
rs7219263	0.93[EUR][1000 genomes]
rs7220790	0.85[EUR][1000 genomes]
rs7223409	0.93[EUR][1000 genomes]
rs7224403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978569	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73978571	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73978591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978592	0.85[EUR][1000 genomes]
rs73978593	0.85[EUR][1000 genomes]
rs73978596	0.85[EUR][1000 genomes]
rs73978602	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981406	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981410	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73981413	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981414	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981417	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981421	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981425	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73981431	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73981433	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73981436	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73981438	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73981440	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73981442	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73981443	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73981444	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73981445	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73981447	0.93[EUR][1000 genomes]
rs73981450	0.93[EUR][1000 genomes]
rs73981464	0.86[EUR][1000 genomes]
rs8067494	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8070719	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8073693	0.85[EUR][1000 genomes]
rs8074888	0.85[EUR][1000 genomes]
rs8077643	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078888	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8079698	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	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
9	nsv907707	chr17:15846535-15950751	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv907709	chr17:15851196-15937487	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv907708	chr17:15851196-15950751	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv1057493	chr17:15852125-15930718	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv543215	chr17:15852125-15930718	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv907710	chr17:15854257-15950751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1062220	chr17:15869557-16093156	Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
16	nsv1064878	chr17:15869557-16097241	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
17	nsv1055173	chr17:15875935-16097241	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
18	nsv1056157	chr17:15890584-16088473	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 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	chr17:15904400-15912600	Strong transcription	Fetal Muscle Trunk	muscle
2	chr17:15904600-15912200	Strong transcription	Primary B cells from cord blood	blood
3	chr17:15904600-15912600	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr17:15904600-15913400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr17:15904800-15912000	Strong transcription	Fetal Brain Female	brain
6	chr17:15904800-15912400	Strong transcription	Fetal Thymus	thymus
7	chr17:15904800-15912600	Strong transcription	Colon Smooth Muscle	Colon
8	chr17:15904800-15912600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr17:15904800-15912600	Strong transcription	Fetal Lung	lung
10	chr17:15904800-15912600	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr17:15904800-15914400	Strong transcription	Liver	Liver
12	chr17:15904800-15915800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:15904800-15917200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:15905000-15912200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:15905000-15912200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
16	chr17:15905000-15912200	Strong transcription	Brain Substantia Nigra	brain
17	chr17:15905000-15912200	Strong transcription	Colonic Mucosa	Colon
18	chr17:15905000-15912200	Strong transcription	Fetal Muscle Leg	muscle
19	chr17:15905000-15912200	Strong transcription	Fetal Stomach	stomach
20	chr17:15905000-15912600	Strong transcription	Brain Angular Gyrus	brain
21	chr17:15905000-15912600	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr17:15905000-15912600	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr17:15905000-15912600	Strong transcription	Stomach Smooth Muscle	stomach
24	chr17:15905000-15912600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr17:15905000-15913200	Strong transcription	NHDF-Ad	bronchial
26	chr17:15905000-15914600	Weak transcription	Stomach Mucosa	stomach
27	chr17:15905000-15915000	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr17:15905000-15915200	Strong transcription	HSMM	muscle
29	chr17:15905000-15915600	Strong transcription	NH-A	brain
30	chr17:15905000-15915800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:15905000-15916000	Strong transcription	Osteobl	bone
32	chr17:15905000-15916800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:15905000-15939600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:15905000-15946400	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr17:15905200-15912000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr17:15905200-15912000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr17:15905200-15912200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr17:15905200-15912600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
39	chr17:15905200-15912600	Strong transcription	Primary T cells from cord blood	blood
40	chr17:15905200-15912600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr17:15905200-15912600	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr17:15905200-15912600	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr17:15905200-15912800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr17:15905200-15912800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr17:15905200-15913000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr17:15905200-15913200	Strong transcription	Brain Germinal Matrix	brain
47	chr17:15905200-15913200	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr17:15905200-15913400	Strong transcription	Placenta	Placenta
49	chr17:15905200-15918000	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr17:15905200-15918600	Strong transcription	Primary B cells from peripheral blood	blood

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