Variant report

Variant	rs556446
Chromosome Location	chr1:93567517-93567518
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	chr1:93551871..93559721-chr1:93563340..93568184,9	K562	blood:
2	chr1:93546982..93548985-chr1:93566193..93568747,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1010476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12038046	0.88[AMR][1000 genomes]
rs2255722	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2281524	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2281525	0.81[ASN][1000 genomes]
rs2484486	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2749732	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2783490	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2783493	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2783495	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2783496	0.81[ASN][1000 genomes]
rs2783497	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2783505	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2815406	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2815429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs489183	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs579138	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61799470	0.84[AMR][1000 genomes];0.82[ASN][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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93545800-93568000	Weak transcription	Gastric	stomach
2	chr1:93545800-93578400	Weak transcription	Pancreas	Pancrea
3	chr1:93546000-93573000	Weak transcription	Placenta	Placenta
4	chr1:93546200-93602200	Weak transcription	Aorta	Aorta
5	chr1:93546400-93569400	Weak transcription	Ovary	ovary
6	chr1:93547200-93576800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:93547400-93581800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:93547600-93580600	Weak transcription	Adipose Nuclei	Adipose
9	chr1:93547600-93580600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:93547600-93600000	Weak transcription	HSMMtube	muscle
11	chr1:93547800-93575400	Weak transcription	Hela-S3	cervix
12	chr1:93547800-93580600	Weak transcription	Fetal Kidney	kidney
13	chr1:93548000-93601800	Weak transcription	NHLF	lung
14	chr1:93548200-93576600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:93548200-93576600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:93548200-93576800	Weak transcription	Osteobl	bone
17	chr1:93548200-93578400	Weak transcription	Lung	lung
18	chr1:93548600-93569400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:93548800-93581600	Weak transcription	Small Intestine	intestine
20	chr1:93549000-93576800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:93549000-93582400	Weak transcription	HMEC	breast
22	chr1:93549000-93582800	Weak transcription	NHEK	skin
23	chr1:93550600-93572600	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:93551400-93579800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:93551600-93570800	Weak transcription	HUVEC	blood vessel
26	chr1:93551600-93571000	Weak transcription	Fetal Intestine Large	intestine
27	chr1:93551600-93573000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:93551600-93578400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:93551800-93569400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:93551800-93571200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:93551800-93572400	Weak transcription	Brain Germinal Matrix	brain
32	chr1:93551800-93572600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:93551800-93576600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:93551800-93579800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:93552000-93572600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:93552000-93580000	Weak transcription	NH-A	brain
37	chr1:93552200-93573600	Weak transcription	Fetal Lung	lung
38	chr1:93552400-93569400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:93552600-93573000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:93552800-93569200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:93555400-93581000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:93555600-93569600	Weak transcription	Fetal Intestine Small	intestine
43	chr1:93555600-93570800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:93555600-93572600	Weak transcription	HSMM	muscle
45	chr1:93559200-93569200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:93559200-93570800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:93559400-93571200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:93559400-93571400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:93559400-93576600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:93559400-93581000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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