Variant report

Variant	rs7515054
Chromosome Location	chr1:63030799-63030800
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10889346	0.92[AFR][1000 genomes]
rs1168012	0.90[YRI][hapmap]
rs1168037	0.89[YRI][hapmap]
rs1168084	0.90[YRI][hapmap]
rs1168091	0.80[YRI][hapmap]
rs1168092	1.00[YRI][hapmap]
rs1168095	1.00[YRI][hapmap]
rs1168101	0.90[YRI][hapmap]
rs1168123	1.00[YRI][hapmap]
rs1628350	0.83[YRI][hapmap]
rs1690764	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1748191	0.90[YRI][hapmap]
rs1748193	0.83[YRI][hapmap]
rs2813926	0.80[YRI][hapmap]
rs4329539	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs593519	0.89[YRI][hapmap]
rs660642	0.80[YRI][hapmap]
rs7522249	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:74 , 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	chr1:62954000-63053400	Weak transcription	Fetal Brain Male	brain
5	chr1:62957800-63050200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:62958200-63061000	Weak transcription	Lung	lung
7	chr1:62994000-63051000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:63000200-63037000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:63000200-63054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:63003000-63037400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:63003200-63045200	Weak transcription	Gastric	stomach
12	chr1:63005400-63037400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:63005400-63037400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:63005600-63050200	Weak transcription	NHLF	lung
15	chr1:63007200-63056200	Weak transcription	Brain Anterior Caudate	brain
16	chr1:63007200-63096200	Weak transcription	HUVEC	blood vessel
17	chr1:63007600-63040400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:63007800-63037400	Weak transcription	Left Ventricle	heart
19	chr1:63007800-63040600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:63008400-63038000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:63008400-63053200	Weak transcription	Osteobl	bone
22	chr1:63008600-63037400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:63009600-63037800	Weak transcription	HSMM	muscle
24	chr1:63010800-63078400	Weak transcription	A549	lung
25	chr1:63017800-63057600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:63018000-63051200	Weak transcription	Colonic Mucosa	Colon
27	chr1:63019800-63052400	Weak transcription	HMEC	breast
28	chr1:63021600-63037400	Weak transcription	Ovary	ovary
29	chr1:63021600-63058800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:63021600-63061400	Weak transcription	Pancreas	Pancrea
31	chr1:63021800-63037800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:63021800-63038000	Weak transcription	Dnd41	blood
33	chr1:63021800-63038600	Weak transcription	NHDF-Ad	bronchial
34	chr1:63024400-63053200	Weak transcription	NH-A	brain
35	chr1:63025000-63043600	Weak transcription	Thymus	Thymus
36	chr1:63025800-63038200	Weak transcription	Psoas Muscle	Psoas
37	chr1:63026000-63037000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:63026400-63033400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr1:63026400-63052200	Weak transcription	Primary B cells from cord blood	blood
40	chr1:63026400-63053400	Weak transcription	Primary T cells from cord blood	blood
41	chr1:63026800-63031400	Weak transcription	Brain Germinal Matrix	brain
42	chr1:63026800-63037000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:63026800-63037400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:63026800-63037800	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:63026800-63050200	Weak transcription	HSMMtube	muscle
46	chr1:63027000-63031000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:63027000-63031000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:63027000-63032000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:63027000-63033000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:63027000-63036200	Weak transcription	Fetal Kidney	kidney

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