Variant report

Variant	rs41305084
Chromosome Location	chr1:193218793-193218794
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193216941..193221237-chr1:193223372..193228455,4	K562	blood:
2	chr1:193217879..193219422-chr1:193221732..193224012,2	K562	blood:
3	chr1:193212028..193214033-chr1:193218505..193221005,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1221501	0.86[AFR][1000 genomes]
rs1536100	0.86[AFR][1000 genomes]
rs16835204	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2265555	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2477550	0.90[EUR][1000 genomes]
rs4657746	0.86[AFR][1000 genomes]
rs506721	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs551862	0.90[AFR][1000 genomes]
rs56986460	0.93[AFR][1000 genomes]
rs60563043	0.81[EUR][1000 genomes]
rs74130935	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74130936	0.85[AFR][1000 genomes]
rs74130937	0.86[AFR][1000 genomes]
rs74130938	0.93[AFR][1000 genomes]
rs74130939	0.93[AFR][1000 genomes]
rs74130940	0.90[AFR][1000 genomes]
rs74130941	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74130942	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7518409	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7521045	1.00[EUR][1000 genomes]
rs7527486	0.81[EUR][1000 genomes]
rs7533841	0.81[EUR][1000 genomes]
rs7556154	0.93[AFR][1000 genomes]
rs7556241	0.93[AFR][1000 genomes]
rs817134	0.93[AFR][1000 genomes]
rs817135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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	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
6	nsv947360	chr1:193212675-193222169	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	esv275037	chr1:193213198-193225083	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193168000-193228400	Weak transcription	Stomach Mucosa	stomach
3	chr1:193180600-193231200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:193180800-193228200	Weak transcription	Small Intestine	intestine
5	chr1:193181800-193232800	Weak transcription	Colonic Mucosa	Colon
6	chr1:193184400-193227600	Weak transcription	HMEC	breast
7	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:193191400-193221000	Weak transcription	Brain Substantia Nigra	brain
9	chr1:193201000-193229600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:193202000-193228800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:193209600-193219400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:193210800-193228200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:193210800-193229200	Weak transcription	Gastric	stomach
14	chr1:193211000-193230600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:193211400-193233800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:193211600-193220000	Weak transcription	Lung	lung
17	chr1:193211600-193233400	Weak transcription	Fetal Stomach	stomach
18	chr1:193211600-193235000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:193213400-193223000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:193215200-193220200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:193215800-193219000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:193215800-193220600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:193216000-193218800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:193216000-193219000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:193216000-193219000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:193216000-193219000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
27	chr1:193216000-193220000	Strong transcription	Fetal Thymus	thymus
28	chr1:193216000-193220600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:193216000-193221000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr1:193216000-193222600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr1:193216200-193219200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:193216400-193219400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr1:193216400-193220000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:193216400-193238800	Weak transcription	Hela-S3	cervix
35	chr1:193216600-193219400	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr1:193216600-193220600	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:193216800-193218800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:193216800-193220000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:193217000-193229200	Weak transcription	NHLF	lung
40	chr1:193217000-193231800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:193217000-193244600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:193217200-193219000	Strong transcription	Primary T cells from cord blood	blood
43	chr1:193217200-193219000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:193217200-193219400	Strong transcription	NHDF-Ad	bronchial
45	chr1:193217200-193220000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:193217200-193220400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:193217200-193240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:193217400-193219000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:193217400-193219000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:193217400-193219800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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