Variant report

Variant	rs1168012
Chromosome Location	chr1:62996946-62996947
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	chr1:62996451..62998625-chr1:63013165..63014900,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10889346	1.00[AMR][1000 genomes]
rs1168007	0.83[YRI][hapmap]
rs1168014	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168019	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168024	0.83[YRI][hapmap]
rs1168033	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168037	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168039	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168043	0.84[ASW][hapmap];0.82[LWK][hapmap]
rs1168084	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1168090	1.00[AMR][1000 genomes]
rs1168092	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs1168095	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs1168101	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1168105	1.00[AMR][1000 genomes]
rs1168115	0.84[ASW][hapmap]
rs1168123	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs1183265	1.00[AMR][1000 genomes]
rs1628350	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1690764	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs17123733	1.00[AMR][1000 genomes]
rs1748186	1.00[AMR][1000 genomes]
rs1748191	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1748193	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1781194	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1781197	1.00[AMR][1000 genomes]
rs2769486	1.00[AMR][1000 genomes]
rs4329539	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs614636	0.83[YRI][hapmap]
rs631982	0.83[YRI][hapmap]
rs6587979	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078654	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7515054	0.90[YRI][hapmap]
rs7522249	1.00[ASW][hapmap];0.91[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][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	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv1829390	chr1:62931632-62997573	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62939600-62999800	Weak transcription	Gastric	stomach
2	chr1:62939600-63040600	Weak transcription	Aorta	Aorta
3	chr1:62939800-63044400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:62939800-63060200	Weak transcription	Small Intestine	intestine
5	chr1:62941000-63001000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:62941600-62998200	Weak transcription	Fetal Heart	heart
7	chr1:62941600-63011800	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:62941800-63030200	Weak transcription	Brain Angular Gyrus	brain
9	chr1:62954000-63003400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:62954000-63053400	Weak transcription	Fetal Brain Male	brain
11	chr1:62957800-62998200	Weak transcription	Primary T cells from cord blood	blood
12	chr1:62957800-63050200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:62958200-63010800	Weak transcription	Brain Substantia Nigra	brain
14	chr1:62958200-63061000	Weak transcription	Lung	lung
15	chr1:62958400-62997600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:62958400-62998200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:62960000-62998200	Weak transcription	HMEC	breast
18	chr1:62960200-62999800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:62960400-63004400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:62960400-63011800	Weak transcription	Pancreas	Pancrea
21	chr1:62968400-63000200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:62970600-62998200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:62977000-63004800	Weak transcription	NHLF	lung
24	chr1:62978600-62997600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:62978600-62999600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:62978800-63002000	Weak transcription	NH-A	brain
27	chr1:62979000-62998000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:62979200-62997600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:62979200-63026200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:62979400-62999200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:62979600-62998200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:62979600-62998400	Weak transcription	Ovary	ovary
33	chr1:62979600-62999600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:62979600-63000000	Weak transcription	Left Ventricle	heart
35	chr1:62979600-63030200	Weak transcription	NHEK	skin
36	chr1:62981400-63003400	Weak transcription	Fetal Kidney	kidney
37	chr1:62981600-63004600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr1:62982800-63010200	Weak transcription	A549	lung
39	chr1:62984200-63028000	Weak transcription	Esophagus	oesophagus
40	chr1:62984600-63005200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:62985400-62997600	Weak transcription	Adipose Nuclei	Adipose
42	chr1:62985400-62997600	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:62985400-62997600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:62985400-62998000	Weak transcription	Fetal Intestine Large	intestine
45	chr1:62985400-62999400	Weak transcription	Brain Germinal Matrix	brain
46	chr1:62985400-62999600	Weak transcription	Fetal Brain Female	brain
47	chr1:62985400-63001000	Weak transcription	Dnd41	blood
48	chr1:62985400-63001800	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:62985400-63004600	Weak transcription	HSMMtube	muscle
50	chr1:62985400-63026200	Weak transcription	Primary B cells from cord blood	blood

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