Variant report

Variant	rs7518409
Chromosome Location	chr1:193191124-193191125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193186479..193188136-chr1:193189038..193191435,2	MCF-7	breast:
2	chr1:193189908..193192656-chr1:193195935..193198458,2	K562	blood:
3	chr1:193190934..193192704-chr1:193194043..193196194,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1221501	0.80[AFR][1000 genomes]
rs12531	1.00[CEU][hapmap]
rs1536100	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs16835169	1.00[YRI][hapmap]
rs16835204	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2265555	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2477550	0.90[EUR][1000 genomes]
rs41305084	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4657746	0.93[AFR][1000 genomes]
rs506721	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs551862	0.83[AFR][1000 genomes]
rs56986460	0.87[AFR][1000 genomes]
rs60563043	0.81[EUR][1000 genomes]
rs6665739	1.00[YRI][hapmap]
rs6665751	1.00[YRI][hapmap]
rs74130932	0.87[AFR][1000 genomes]
rs74130935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74130936	0.92[AFR][1000 genomes]
rs74130937	0.93[AFR][1000 genomes]
rs74130938	0.87[AFR][1000 genomes]
rs74130939	0.87[AFR][1000 genomes]
rs74130940	0.83[AFR][1000 genomes]
rs74130941	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74130942	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7521045	1.00[EUR][1000 genomes]
rs7522932	0.86[YRI][hapmap]
rs7527486	0.81[EUR][1000 genomes]
rs7533841	0.81[EUR][1000 genomes]
rs7551600	0.87[AFR][1000 genomes]
rs7556154	0.87[AFR][1000 genomes]
rs7556241	0.87[AFR][1000 genomes]
rs817134	0.87[AFR][1000 genomes]
rs817135	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
3	chr1:193159000-193210000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:193167800-193210400	Weak transcription	Ovary	ovary
5	chr1:193168000-193228400	Weak transcription	Stomach Mucosa	stomach
6	chr1:193170200-193191200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:193170400-193216000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:193176800-193203800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:193176800-193209200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:193177000-193206600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:193180600-193200400	Weak transcription	Fetal Heart	heart
12	chr1:193180600-193231200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:193180800-193228200	Weak transcription	Small Intestine	intestine
14	chr1:193181000-193207400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:193181400-193198200	Weak transcription	Hela-S3	cervix
16	chr1:193181800-193210400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:193181800-193232800	Weak transcription	Colonic Mucosa	Colon
18	chr1:193183400-193211000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:193183400-193216000	Weak transcription	NHEK	skin
20	chr1:193184200-193202200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:193184200-193209000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:193184400-193202000	Weak transcription	K562	blood
23	chr1:193184400-193227600	Weak transcription	HMEC	breast
24	chr1:193185000-193204200	Weak transcription	Fetal Kidney	kidney
25	chr1:193185400-193204600	Weak transcription	NHDF-Ad	bronchial
26	chr1:193185400-193211000	Weak transcription	Fetal Brain Female	brain
27	chr1:193185400-193218200	Weak transcription	HepG2	liver
28	chr1:193185600-193194000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:193185600-193202200	Weak transcription	Osteobl	bone
30	chr1:193186200-193198400	Weak transcription	Psoas Muscle	Psoas
31	chr1:193186200-193202000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:193186200-193202000	Weak transcription	NH-A	brain
33	chr1:193186200-193216600	Weak transcription	HUVEC	blood vessel
34	chr1:193186600-193198600	Weak transcription	Placenta	Placenta
35	chr1:193186600-193210600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:193186600-193216200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:193186800-193197400	Weak transcription	A549	lung
38	chr1:193186800-193202000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:193186800-193210400	Weak transcription	Lung	lung
40	chr1:193187000-193191200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:193187000-193191400	Weak transcription	Brain Germinal Matrix	brain
42	chr1:193187000-193201800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:193187000-193202200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:193187000-193205200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:193187000-193205200	Weak transcription	Fetal Intestine Small	intestine
46	chr1:193187000-193205200	Weak transcription	Left Ventricle	heart
47	chr1:193187000-193205400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:193187000-193205400	Weak transcription	Fetal Stomach	stomach
49	chr1:193187000-193206600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:193187000-193207200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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