Variant report

Variant	rs17778396
Chromosome Location	chr7:104887307-104887308
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104874376..104876423-chr7:104885886..104887727,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10224564	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10228503	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10230128	0.93[EUR][1000 genomes]
rs10230449	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10233695	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235252	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10240574	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10248422	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10248954	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249170	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10252295	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10255779	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10258841	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10259721	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10261613	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10261738	0.87[ASN][1000 genomes]
rs10261782	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10272634	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10276153	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10280336	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953473	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11769318	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11769936	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11973742	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11973780	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12537761	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12666949	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12669532	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12705305	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13223001	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13237370	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13246886	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17721991	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1917047	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1978201	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2040913	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2237611	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2237615	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237616	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237618	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237619	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237620	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286124	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2299312	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299313	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299314	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299316	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2299320	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2299325	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385542	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2385556	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28461911	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28823350	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34003298	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34154773	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34717863	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34789097	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35442357	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35973577	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35993922	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3735372	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779208	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3779209	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3801283	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4610671	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4727622	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4730078	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55796396	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60446665	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62488069	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6971241	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs717352	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs725506	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73186027	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73188303	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73188305	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7808168	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8180735	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8180737	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9641343	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9641347	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9641348	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][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	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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 target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104869200-104892000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:104869600-104909200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:104870800-104889400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:104872200-104897200	Weak transcription	Primary T cells from cord blood	blood
5	chr7:104872600-104889200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr7:104875000-104893800	Genic enhancers	Dnd41	blood
7	chr7:104877200-104898400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:104877600-104887400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:104879000-104889000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:104879000-104890800	Weak transcription	Aorta	Aorta
11	chr7:104879000-104891800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:104879000-104907800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:104879600-104897400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:104879800-104896800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:104880800-104887400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:104882000-104887800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr7:104882200-104887400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr7:104882400-104892400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr7:104885000-104887600	Enhancers	Fetal Muscle Leg	muscle
20	chr7:104885000-104888000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:104885200-104887800	Enhancers	Fetal Heart	heart
22	chr7:104885400-104907000	Weak transcription	Fetal Intestine Small	intestine
23	chr7:104885600-104887400	Enhancers	Brain Germinal Matrix	brain
24	chr7:104885600-104887600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:104885600-104887600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:104885600-104887600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr7:104885600-104887600	Enhancers	HSMM	muscle
28	chr7:104885600-104887800	Enhancers	Primary B cells from peripheral blood	blood
29	chr7:104885600-104887800	Enhancers	Brain Angular Gyrus	brain
30	chr7:104885600-104887800	Enhancers	Brain Hippocampus Middle	brain
31	chr7:104885600-104887800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:104885600-104887800	Enhancers	Fetal Lung	lung
33	chr7:104885600-104887800	Enhancers	K562	blood
34	chr7:104885600-104888000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:104885600-104888000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr7:104885600-104888000	Enhancers	Brain Anterior Caudate	brain
37	chr7:104885600-104888000	Enhancers	Brain Cingulate Gyrus	brain
38	chr7:104885600-104888000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr7:104885600-104888000	Enhancers	Brain Substantia Nigra	brain
40	chr7:104885800-104887600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:104885800-104888000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr7:104886000-104887400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr7:104886000-104887600	Enhancers	Colon Smooth Muscle	Colon
44	chr7:104886000-104887800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr7:104886000-104888000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr7:104886000-104902200	Weak transcription	Lung	lung
47	chr7:104886200-104887600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:104886200-104887600	Enhancers	Fetal Thymus	thymus
49	chr7:104886200-104887800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr7:104886200-104887800	Enhancers	Thymus	Thymus

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