Variant report

Variant	rs61433067
Chromosome Location	chr1:93568956-93568957
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93567850..93570397-chr1:93578761..93580603,2	K562	blood:
2	chr1:93563011..93566516-chr1:93567594..93571757,4	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1064797	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12404947	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12405666	0.94[EUR][1000 genomes]
rs12409621	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17131703	0.98[EUR][1000 genomes]
rs17131705	0.98[EUR][1000 genomes]
rs17131709	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17131710	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17386609	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2749734	0.95[EUR][1000 genomes]
rs2785602	0.95[EUR][1000 genomes]
rs2785605	0.95[EUR][1000 genomes]
rs2815419	0.95[EUR][1000 genomes]
rs2815423	0.95[EUR][1000 genomes]
rs2815424	0.97[EUR][1000 genomes]
rs41286823	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292137	0.97[EUR][1000 genomes]
rs4240965	0.87[EUR][1000 genomes]
rs4347219	0.94[EUR][1000 genomes]
rs475120	0.98[EUR][1000 genomes]
rs488345	0.97[EUR][1000 genomes]
rs495580	0.97[EUR][1000 genomes]
rs500349	0.97[EUR][1000 genomes]
rs502651	0.86[EUR][1000 genomes]
rs519319	0.97[EUR][1000 genomes]
rs539544	0.95[EUR][1000 genomes]
rs548751	0.97[EUR][1000 genomes]
rs571439	0.98[EUR][1000 genomes]
rs574687	0.98[EUR][1000 genomes]
rs57992499	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs580828	0.95[EUR][1000 genomes]
rs60458375	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6604042	0.98[EUR][1000 genomes]
rs66501175	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6689007	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67002303	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6703169	0.94[EUR][1000 genomes]
rs67262037	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67337461	0.97[EUR][1000 genomes]
rs67395827	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67711178	0.97[EUR][1000 genomes]
rs67723709	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67768103	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67992203	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715364	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72715394	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72717318	0.92[EUR][1000 genomes]
rs72717334	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72717337	0.94[EUR][1000 genomes]
rs72717346	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72717352	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72717354	0.94[EUR][1000 genomes]
rs72717374	0.94[EUR][1000 genomes]
rs72719120	0.97[EUR][1000 genomes]
rs72955366	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955388	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959223	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72959288	0.97[EUR][1000 genomes]
rs72959296	0.94[EUR][1000 genomes]
rs797594	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93545800-93578400	Weak transcription	Pancreas	Pancrea
2	chr1:93546000-93573000	Weak transcription	Placenta	Placenta
3	chr1:93546200-93602200	Weak transcription	Aorta	Aorta
4	chr1:93546400-93569400	Weak transcription	Ovary	ovary
5	chr1:93547200-93576800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:93547400-93581800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:93547600-93580600	Weak transcription	Adipose Nuclei	Adipose
8	chr1:93547600-93580600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:93547600-93600000	Weak transcription	HSMMtube	muscle
10	chr1:93547800-93575400	Weak transcription	Hela-S3	cervix
11	chr1:93547800-93580600	Weak transcription	Fetal Kidney	kidney
12	chr1:93548000-93601800	Weak transcription	NHLF	lung
13	chr1:93548200-93576600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:93548200-93576600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:93548200-93576800	Weak transcription	Osteobl	bone
16	chr1:93548200-93578400	Weak transcription	Lung	lung
17	chr1:93548600-93569400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:93548800-93581600	Weak transcription	Small Intestine	intestine
19	chr1:93549000-93576800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:93549000-93582400	Weak transcription	HMEC	breast
21	chr1:93549000-93582800	Weak transcription	NHEK	skin
22	chr1:93550600-93572600	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:93551400-93579800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:93551600-93570800	Weak transcription	HUVEC	blood vessel
25	chr1:93551600-93571000	Weak transcription	Fetal Intestine Large	intestine
26	chr1:93551600-93573000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:93551600-93578400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:93551800-93569400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:93551800-93571200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:93551800-93572400	Weak transcription	Brain Germinal Matrix	brain
31	chr1:93551800-93572600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:93551800-93576600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:93551800-93579800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:93552000-93572600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:93552000-93580000	Weak transcription	NH-A	brain
36	chr1:93552200-93573600	Weak transcription	Fetal Lung	lung
37	chr1:93552400-93569400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr1:93552600-93573000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:93552800-93569200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:93555400-93581000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:93555600-93569600	Weak transcription	Fetal Intestine Small	intestine
42	chr1:93555600-93570800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:93555600-93572600	Weak transcription	HSMM	muscle
44	chr1:93559200-93569200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:93559200-93570800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:93559400-93571200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:93559400-93571400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:93559400-93576600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:93559400-93581000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:93560000-93573800	Weak transcription	Liver	Liver

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