Variant report

Variant	rs797594
Chromosome Location	chr1:93550956-93550957
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	chr1:93548731..93551569-chr1:93563538..93565587,2	MCF-7	breast:
2	chr1:93516477..93519592-chr1:93550501..93553219,3	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1064797	0.87[EUR][1000 genomes]
rs12080248	0.89[ASN][1000 genomes]
rs12404947	0.84[EUR][1000 genomes]
rs12405666	0.81[EUR][1000 genomes]
rs12409621	0.81[EUR][1000 genomes]
rs12736775	0.89[ASN][1000 genomes]
rs17131703	0.88[EUR][1000 genomes]
rs17131705	0.88[EUR][1000 genomes]
rs17131709	0.84[EUR][1000 genomes]
rs17131710	0.84[EUR][1000 genomes]
rs17386609	0.81[EUR][1000 genomes]
rs2749734	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2785602	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2785605	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2815419	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2815423	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2815424	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41286823	0.87[EUR][1000 genomes]
rs41292137	0.84[EUR][1000 genomes]
rs4347219	0.81[EUR][1000 genomes]
rs475120	0.88[EUR][1000 genomes]
rs488345	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs490153	0.89[ASN][1000 genomes]
rs495580	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs500349	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs502651	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs519319	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs539544	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs546445	0.86[ASN][1000 genomes]
rs548751	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs550892	0.89[ASN][1000 genomes]
rs566843	0.89[ASN][1000 genomes]
rs571439	0.88[EUR][1000 genomes]
rs574687	0.88[EUR][1000 genomes]
rs57992499	0.87[EUR][1000 genomes]
rs580828	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60458375	0.84[EUR][1000 genomes]
rs61433067	0.87[EUR][1000 genomes]
rs6604041	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6604042	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66501175	0.84[EUR][1000 genomes]
rs6670960	0.89[ASN][1000 genomes]
rs6689007	0.87[EUR][1000 genomes]
rs6696026	0.89[ASN][1000 genomes]
rs67002303	0.84[EUR][1000 genomes]
rs6703169	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67262037	0.87[EUR][1000 genomes]
rs67337461	0.84[EUR][1000 genomes]
rs67395827	0.84[EUR][1000 genomes]
rs67711178	0.87[EUR][1000 genomes]
rs67723709	0.84[EUR][1000 genomes]
rs67768103	0.84[EUR][1000 genomes]
rs67992203	0.87[EUR][1000 genomes]
rs72715364	0.84[EUR][1000 genomes]
rs72715394	0.81[EUR][1000 genomes]
rs72717334	0.84[EUR][1000 genomes]
rs72717337	0.81[EUR][1000 genomes]
rs72717346	0.83[EUR][1000 genomes]
rs72717352	0.84[EUR][1000 genomes]
rs72717354	0.81[EUR][1000 genomes]
rs72717374	0.81[EUR][1000 genomes]
rs72719120	0.84[EUR][1000 genomes]
rs72955366	0.87[EUR][1000 genomes]
rs72955388	0.87[EUR][1000 genomes]
rs72959223	0.84[EUR][1000 genomes]
rs72959288	0.84[EUR][1000 genomes]
rs72959296	0.81[EUR][1000 genomes]
rs7555395	0.89[ASN][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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv508404	chr1:93547383-93580012	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93545800-93551000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:93545800-93551000	Weak transcription	Left Ventricle	heart
3	chr1:93545800-93555400	Weak transcription	Spleen	Spleen
4	chr1:93545800-93563200	Weak transcription	Esophagus	oesophagus
5	chr1:93545800-93568000	Weak transcription	Gastric	stomach
6	chr1:93545800-93578400	Weak transcription	Pancreas	Pancrea
7	chr1:93546000-93560600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:93546000-93573000	Weak transcription	Placenta	Placenta
9	chr1:93546200-93563200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:93546200-93602200	Weak transcription	Aorta	Aorta
11	chr1:93546400-93551000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:93546400-93553000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:93546400-93563200	Weak transcription	Psoas Muscle	Psoas
14	chr1:93546400-93567200	Weak transcription	Right Atrium	heart
15	chr1:93546400-93569400	Weak transcription	Ovary	ovary
16	chr1:93546600-93559000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:93546800-93556800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:93547200-93553200	Weak transcription	Fetal Heart	heart
19	chr1:93547200-93559000	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:93547200-93576800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:93547400-93551000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:93547400-93551200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:93547400-93551800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:93547400-93552000	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:93547400-93581800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:93547600-93551200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:93547600-93551200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:93547600-93559400	Weak transcription	Brain Angular Gyrus	brain
29	chr1:93547600-93559400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:93547600-93560200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:93547600-93580600	Weak transcription	Adipose Nuclei	Adipose
32	chr1:93547600-93580600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:93547600-93600000	Weak transcription	HSMMtube	muscle
34	chr1:93547800-93575400	Weak transcription	Hela-S3	cervix
35	chr1:93547800-93580600	Weak transcription	Fetal Kidney	kidney
36	chr1:93548000-93552800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:93548000-93555600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:93548000-93559000	Weak transcription	NHDF-Ad	bronchial
39	chr1:93548000-93601800	Weak transcription	NHLF	lung
40	chr1:93548200-93551000	Weak transcription	HUVEC	blood vessel
41	chr1:93548200-93551200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:93548200-93551200	Weak transcription	Fetal Intestine Large	intestine
43	chr1:93548200-93551800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:93548200-93558200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:93548200-93576600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:93548200-93576600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:93548200-93576800	Weak transcription	Osteobl	bone
48	chr1:93548200-93578400	Weak transcription	Lung	lung
49	chr1:93548400-93551800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:93548400-93552800	ZNF genes & repeats	GM12878-XiMat	blood

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