Variant report

Variant	rs1168007
Chromosome Location	chr1:62939634-62939635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62929093..62931138-chr1:62937429..62939832,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1168006	0.82[AFR][1000 genomes]
rs1168012	0.83[YRI][hapmap]
rs1168024	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168037	0.80[YRI][hapmap]
rs1168084	0.83[YRI][hapmap]
rs1168101	0.83[YRI][hapmap]
rs1185619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1628350	0.83[YRI][hapmap]
rs1748191	0.83[YRI][hapmap]
rs1748193	0.83[YRI][hapmap]
rs1781200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2813925	0.87[ASW][hapmap];0.82[LWK][hapmap]
rs610119	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs614636	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs614665	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs626209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs628385	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs631982	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6587977	0.82[AFR][1000 genomes]
rs7522249	0.83[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	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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62904200-62940000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:62909800-62977000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:62915400-62940800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:62915400-62966600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:62916000-62940800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:62916000-62977200	Weak transcription	Right Ventricle	heart
7	chr1:62916200-62960000	Weak transcription	Spleen	Spleen
8	chr1:62916200-62963200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:62916400-62940800	Weak transcription	Fetal Heart	heart
10	chr1:62916400-62941400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:62916600-62976600	Weak transcription	Psoas Muscle	Psoas
12	chr1:62917000-62941200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:62917200-62940800	Weak transcription	NHEK	skin
14	chr1:62917400-62940200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:62918800-62950000	Weak transcription	GM12878-XiMat	blood
16	chr1:62918800-62950800	Weak transcription	K562	blood
17	chr1:62919000-62959200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:62919400-62940800	Weak transcription	NHLF	lung
19	chr1:62920000-62971000	Weak transcription	Thymus	Thymus
20	chr1:62920000-62980200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:62921400-62940000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:62922200-62940800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:62922600-62982000	Weak transcription	A549	lung
24	chr1:62923200-62979200	Weak transcription	Fetal Thymus	thymus
25	chr1:62927800-62943600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:62929200-62943400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:62929400-62940800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:62930200-62941800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:62930600-62943400	Strong transcription	Liver	Liver
30	chr1:62932200-62949200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:62932400-62940400	Weak transcription	Fetal Brain Male	brain
32	chr1:62932800-62941600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:62934400-62981200	Weak transcription	Stomach Mucosa	stomach
34	chr1:62934600-62944000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:62935000-62943600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:62935200-62941400	Weak transcription	Brain Angular Gyrus	brain
37	chr1:62935400-62941600	Strong transcription	Fetal Intestine Large	intestine
38	chr1:62935600-62941400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:62935600-62941600	Strong transcription	HepG2	liver
40	chr1:62935600-62942200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr1:62935600-62942600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:62935800-62941800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:62935800-62942000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:62935800-62942800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:62936000-62941200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr1:62936000-62941200	Strong transcription	Fetal Muscle Leg	muscle
47	chr1:62936000-62942600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:62936000-62942800	Strong transcription	Ovary	ovary
49	chr1:62936000-62943600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:62936200-62939800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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