Variant report

Variant	rs7218594
Chromosome Location	chr17:17814187-17814188
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17796724..17798654-chr17:17812800..17814687,2	K562	blood:
2	chr17:17806459..17808232-chr17:17813568..17815974,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs16960767	1.00[AMR][1000 genomes]
rs16960818	1.00[AMR][1000 genomes]
rs56054716	1.00[AMR][1000 genomes]
rs56153053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56160247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56232485	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56928492	1.00[AMR][1000 genomes]
rs57082481	1.00[AMR][1000 genomes]
rs57134764	1.00[EUR][1000 genomes]
rs57277459	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57791826	1.00[AMR][1000 genomes]
rs58116638	1.00[EUR][1000 genomes]
rs58219643	1.00[AMR][1000 genomes]
rs58376085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58676524	1.00[AMR][1000 genomes]
rs58936409	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58970292	1.00[EUR][1000 genomes]
rs61050785	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61060916	1.00[AMR][1000 genomes]
rs61188141	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61256737	1.00[AMR][1000 genomes]
rs7218054	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7218246	1.00[AMR][1000 genomes]
rs7221934	1.00[AMR][1000 genomes]
rs7224621	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297834	1.00[AMR][1000 genomes]
rs73297855	1.00[AMR][1000 genomes]
rs73297868	1.00[AMR][1000 genomes]
rs73299861	1.00[AMR][1000 genomes]
rs73299873	1.00[AMR][1000 genomes]
rs73299892	1.00[AMR][1000 genomes]
rs73301827	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301859	1.00[AMR][1000 genomes]
rs73301894	1.00[AMR][1000 genomes]
rs73303812	1.00[AMR][1000 genomes]
rs73303813	1.00[AMR][1000 genomes]
rs73303833	1.00[AMR][1000 genomes]
rs73303840	1.00[EUR][1000 genomes]
rs73303844	1.00[EUR][1000 genomes]
rs73303854	1.00[AMR][1000 genomes]
rs73303856	1.00[AMR][1000 genomes]
rs73303857	1.00[AMR][1000 genomes]
rs73305952	1.00[AMR][1000 genomes]
rs73979211	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979217	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73981076	1.00[AMR][1000 genomes]
rs8066528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066865	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8067146	1.00[EUR][1000 genomes]
rs8068860	1.00[EUR][1000 genomes]
rs8078368	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9914362	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
4	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
6	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
7	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17782200-17817000	Weak transcription	Fetal Kidney	kidney
2	chr17:17793000-17817200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:17797000-17817000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr17:17797600-17822400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr17:17801200-17817200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr17:17802400-17817000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr17:17802600-17817600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr17:17802600-17820000	Weak transcription	Primary B cells from cord blood	blood
9	chr17:17802600-17822400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr17:17804800-17814600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:17805000-17817400	Weak transcription	Small Intestine	intestine
12	chr17:17806000-17814400	Weak transcription	Stomach Mucosa	stomach
13	chr17:17807200-17816800	Weak transcription	Hela-S3	cervix
14	chr17:17810000-17817000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr17:17810000-17817000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr17:17810200-17815000	Enhancers	K562	blood
17	chr17:17810400-17814200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr17:17810400-17814200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr17:17810400-17814400	Weak transcription	Pancreas	Pancrea
20	chr17:17810400-17814400	Weak transcription	A549	lung
21	chr17:17810400-17814600	Weak transcription	Fetal Intestine Large	intestine
22	chr17:17810400-17817000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:17810400-17817000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:17810400-17817000	Weak transcription	Thymus	Thymus
25	chr17:17810400-17817200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr17:17810600-17814200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr17:17810600-17814200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr17:17810600-17814200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr17:17810600-17817000	Weak transcription	Osteobl	bone
30	chr17:17810600-17817200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr17:17810600-17817200	Weak transcription	Gastric	stomach
32	chr17:17810600-17817400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr17:17810600-17817400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr17:17810600-17822800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr17:17810800-17814200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr17:17810800-17814200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:17810800-17814400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr17:17810800-17814400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr17:17810800-17814400	Weak transcription	NHDF-Ad	bronchial
40	chr17:17810800-17816800	Weak transcription	NHEK	skin
41	chr17:17810800-17816800	Weak transcription	NHLF	lung
42	chr17:17810800-17817000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr17:17810800-17817000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr17:17810800-17817000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr17:17810800-17817000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr17:17810800-17817000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr17:17810800-17817000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr17:17810800-17817000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr17:17810800-17817200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr17:17810800-17817200	Weak transcription	Colonic Mucosa	Colon

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