Variant report

Variant	rs660642
Chromosome Location	chr1:62904519-62904520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:62903692..62905802-chr1:63153946..63155842,2	K562	blood:
2	chr1:61519005..61521478-chr1:62902730..62905153,2	K562	blood:
3	chr1:62903198..62905557-chr1:63182808..63185122,2	K562	blood:
4	chr1:62903526..62905902-chr1:62994645..62996175,2	K562	blood:

Variant related genes	Relation type
ENSG00000162599	Chromatin interaction
ENSG00000235545	Chromatin interaction
ENSG00000116641	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10889341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1167995	0.89[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1167997	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168008	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168016	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168038	1.00[AMR][1000 genomes]
rs1168048	1.00[AMR][1000 genomes]
rs1168088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168091	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168125	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1690760	0.88[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1690765	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1748194	0.87[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1781215	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2029764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2801387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2813926	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34186185	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4329539	0.80[YRI][hapmap]
rs584387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs593519	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs612455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs657444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7515054	0.80[YRI][hapmap]
rs9436660	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62901000-62904600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:62901000-62904600	Active TSS	Fetal Kidney	kidney
3	chr1:62901000-62904600	Active TSS	Right Ventricle	heart
4	chr1:62901000-62904800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:62901000-62904800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:62901000-62904800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:62901000-62905000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:62901000-62905000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr1:62901000-62905000	Active TSS	HSMM	muscle
10	chr1:62901000-62905200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:62901000-62905200	Active TSS	A549	lung
12	chr1:62901000-62905600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr1:62901000-62905800	Active TSS	NHLF	lung
14	chr1:62901000-62906200	Active TSS	GM12878-XiMat	blood
15	chr1:62901200-62904800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:62901400-62904600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr1:62901400-62904800	Active TSS	Fetal Thymus	thymus
18	chr1:62901400-62904800	Active TSS	Thymus	Thymus
19	chr1:62901400-62905000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:62901400-62905000	Active TSS	NHDF-Ad	bronchial
21	chr1:62901400-62905800	Active TSS	K562	blood
22	chr1:62901400-62906000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:62901600-62904600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:62901600-62904600	Active TSS	Fetal Muscle Leg	muscle
25	chr1:62901600-62904800	Active TSS	Fetal Intestine Small	intestine
26	chr1:62901600-62905200	Active TSS	Hela-S3	cervix
27	chr1:62901800-62904600	Active TSS	Primary T cells fromperipheralblood	blood
28	chr1:62901800-62904600	Active TSS	Dnd41	blood
29	chr1:62901800-62905000	Active TSS	HMEC	breast
30	chr1:62902400-62905000	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr1:62902800-62904600	Active TSS	Right Atrium	heart
32	chr1:62903400-62904800	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr1:62903400-62904800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:62903400-62904800	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr1:62903400-62905200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr1:62903400-62905800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:62903600-62904800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:62903600-62904800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:62903600-62904800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:62903600-62904800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:62903600-62904800	Flanking Active TSS	Liver	Liver
42	chr1:62903600-62904800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr1:62903600-62904800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr1:62903600-62905000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:62903600-62905000	Flanking Active TSS	HUVEC	blood vessel
46	chr1:62903600-62914600	Weak transcription	Spleen	Spleen
47	chr1:62903800-62904600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:62903800-62904600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:62903800-62904800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:62903800-62904800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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