Variant report

Variant	rs7522249
Chromosome Location	chr1:63020286-63020287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10889346	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168007	0.83[YRI][hapmap]
rs1168012	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]
rs1168014	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168019	0.83[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];0.90[LWK][hapmap]
rs1168084	1.00[ASW][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168090	0.86[AFR][1000 genomes];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];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168105	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168115	0.84[ASW][hapmap]
rs1168123	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs1183265	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1628350	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1690764	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs17123733	1.00[AMR][1000 genomes]
rs1748186	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1748191	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1748193	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];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];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs614636	0.83[YRI][hapmap]
rs631982	0.83[YRI][hapmap]
rs6587979	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078654	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7515054	0.90[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62939600-63040600	Weak transcription	Aorta	Aorta
2	chr1:62939800-63044400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:62939800-63060200	Weak transcription	Small Intestine	intestine
4	chr1:62941800-63030200	Weak transcription	Brain Angular Gyrus	brain
5	chr1:62954000-63053400	Weak transcription	Fetal Brain Male	brain
6	chr1:62957800-63050200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:62958200-63061000	Weak transcription	Lung	lung
8	chr1:62979200-63026200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:62979600-63030200	Weak transcription	NHEK	skin
10	chr1:62984200-63028000	Weak transcription	Esophagus	oesophagus
11	chr1:62985400-63026200	Weak transcription	Primary B cells from cord blood	blood
12	chr1:62991000-63027200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:62991200-63025800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:62993000-63022000	Weak transcription	GM12878-XiMat	blood
15	chr1:62994000-63051000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:62994800-63028600	Weak transcription	Right Ventricle	heart
17	chr1:62995000-63030200	Weak transcription	Spleen	Spleen
18	chr1:62998600-63022000	Weak transcription	Fetal Heart	heart
19	chr1:62998600-63024400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:63000200-63037000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:63000200-63054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:63000600-63025400	Weak transcription	Psoas Muscle	Psoas
23	chr1:63001400-63028400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:63002200-63021200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:63002800-63022600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:63003000-63037400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:63003200-63022000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:63003200-63024800	Weak transcription	Brain Germinal Matrix	brain
29	chr1:63003200-63026400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:63003200-63045200	Weak transcription	Gastric	stomach
31	chr1:63003600-63025400	Weak transcription	Primary T cells from cord blood	blood
32	chr1:63003800-63021200	Weak transcription	NH-A	brain
33	chr1:63003800-63022000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:63005000-63025400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr1:63005200-63025600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:63005400-63025400	Weak transcription	HSMMtube	muscle
37	chr1:63005400-63037400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:63005400-63037400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:63005600-63020800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:63005600-63030000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:63005600-63050200	Weak transcription	NHLF	lung
42	chr1:63007200-63020800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:63007200-63024800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:63007200-63025200	Weak transcription	Placenta	Placenta
45	chr1:63007200-63056200	Weak transcription	Brain Anterior Caudate	brain
46	chr1:63007200-63096200	Weak transcription	HUVEC	blood vessel
47	chr1:63007400-63020800	Weak transcription	Ovary	ovary
48	chr1:63007600-63040400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:63007800-63028400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:63007800-63037400	Weak transcription	Left Ventricle	heart

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