Variant report

Variant	rs7556241
Chromosome Location	chr1:193209267-193209268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1221501	0.93[AFR][1000 genomes]
rs1536100	1.00[ASW][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16835204	0.89[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.87[AFR][1000 genomes]
rs2265555	0.93[AFR][1000 genomes]
rs41305084	0.93[AFR][1000 genomes]
rs4657746	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs506721	0.93[AFR][1000 genomes]
rs551862	0.96[AFR][1000 genomes]
rs56986460	1.00[AFR][1000 genomes]
rs60186515	0.83[AMR][1000 genomes]
rs6682435	1.00[MEX][hapmap]
rs6687899	1.00[MEX][hapmap]
rs74130932	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74130935	0.87[AFR][1000 genomes]
rs74130936	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74130937	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74130938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130940	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130941	0.93[AFR][1000 genomes]
rs74130942	0.93[AFR][1000 genomes]
rs7518409	0.87[AFR][1000 genomes]
rs7522932	0.89[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap]
rs7538408	0.80[AFR][1000 genomes]
rs7551600	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7553830	1.00[MEX][hapmap]
rs7556154	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs817134	1.00[AFR][1000 genomes]
rs817135	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv1007444	chr1:193207512-193237789	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1002564	chr1:193208937-193240380	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 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	chr1:193170400-193216000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:193180600-193231200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:193180800-193228200	Weak transcription	Small Intestine	intestine
9	chr1:193181800-193210400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:193181800-193232800	Weak transcription	Colonic Mucosa	Colon
11	chr1:193183400-193211000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:193183400-193216000	Weak transcription	NHEK	skin
13	chr1:193184400-193227600	Weak transcription	HMEC	breast
14	chr1:193185400-193211000	Weak transcription	Fetal Brain Female	brain
15	chr1:193185400-193218200	Weak transcription	HepG2	liver
16	chr1:193186200-193216600	Weak transcription	HUVEC	blood vessel
17	chr1:193186600-193210600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:193186600-193216200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:193186800-193210400	Weak transcription	Lung	lung
20	chr1:193187000-193210400	Weak transcription	Gastric	stomach
21	chr1:193187000-193210800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:193187000-193212200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:193187000-193213000	Weak transcription	Spleen	Spleen
24	chr1:193187000-193216400	Weak transcription	Esophagus	oesophagus
25	chr1:193187000-193216800	Weak transcription	Right Ventricle	heart
26	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:193191400-193217000	Weak transcription	Brain Anterior Caudate	brain
28	chr1:193191400-193221000	Weak transcription	Brain Substantia Nigra	brain
29	chr1:193191600-193216200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:193191600-193216600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:193191600-193216800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:193192200-193216000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:193192200-193216800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:193195600-193216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:193198600-193217000	Weak transcription	A549	lung
36	chr1:193198800-193216000	Weak transcription	GM12878-XiMat	blood
37	chr1:193198800-193216600	Weak transcription	Psoas Muscle	Psoas
38	chr1:193198800-193216600	Weak transcription	NHLF	lung
39	chr1:193201000-193229600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:193202000-193228800	Weak transcription	Brain Angular Gyrus	brain
41	chr1:193202200-193211400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:193202400-193216800	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:193203800-193216000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:193204400-193209600	Strong transcription	Liver	Liver
45	chr1:193204400-193209800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:193204600-193209800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:193205200-193210600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:193205600-193210800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:193205600-193216000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:193205600-193216000	Weak transcription	Fetal Kidney	kidney

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