Variant report

Variant	rs10888979
Chromosome Location	chr1:57010711-57010712
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57010110..57012912-chr1:57012991..57015582,3	K562	blood:
2	chr1:57010225..57012912-chr1:57013019..57015582,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10157636	0.81[YRI][hapmap]
rs11206839	0.93[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11206840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11206841	0.93[ASW][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11583161	0.85[ASW][hapmap];0.95[LWK][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs11590570	0.81[YRI][hapmap];0.82[AFR][1000 genomes]
rs12081589	0.85[ASW][hapmap]
rs1261411	0.83[JPT][hapmap]
rs1930760	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs7512545	0.90[LWK][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes]
rs7519268	0.85[ASW][hapmap];0.93[LWK][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
2	chr1:56992800-57011200	Weak transcription	Stomach Mucosa	stomach
3	chr1:56994000-57012400	Weak transcription	Fetal Brain Male	brain
4	chr1:56994000-57012800	Weak transcription	Fetal Brain Female	brain
5	chr1:56999400-57012800	Weak transcription	HSMMtube	muscle
6	chr1:57000400-57011000	Weak transcription	Gastric	stomach
7	chr1:57000400-57013000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:57001200-57018800	Weak transcription	A549	lung
9	chr1:57001800-57018600	Weak transcription	Small Intestine	intestine
10	chr1:57001800-57021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:57002800-57013200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:57002800-57018600	Weak transcription	Thymus	Thymus
13	chr1:57003200-57011400	Weak transcription	Lung	lung
14	chr1:57003200-57019800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:57003400-57015400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:57003600-57013200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:57003800-57011200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:57004000-57011200	Weak transcription	Spleen	Spleen
19	chr1:57004000-57014800	Weak transcription	Fetal Thymus	thymus
20	chr1:57004200-57011400	Weak transcription	Esophagus	oesophagus
21	chr1:57004400-57013200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:57005600-57013800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:57005800-57010800	Weak transcription	Fetal Heart	heart
24	chr1:57005800-57011200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:57005800-57013200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:57006200-57012200	Weak transcription	Fetal Intestine Large	intestine
27	chr1:57006600-57012200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:57006800-57011000	Weak transcription	Aorta	Aorta
29	chr1:57006800-57011000	Weak transcription	Fetal Intestine Small	intestine
30	chr1:57007000-57011000	Weak transcription	Fetal Stomach	stomach
31	chr1:57007200-57011000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:57007400-57028400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:57007600-57011400	Weak transcription	Adipose Nuclei	Adipose
34	chr1:57007600-57013400	Weak transcription	Osteobl	bone
35	chr1:57007800-57015400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:57008200-57011000	Weak transcription	Right Atrium	heart
37	chr1:57008400-57011000	Weak transcription	Placenta	Placenta
38	chr1:57008400-57013000	Weak transcription	HSMM	muscle
39	chr1:57008600-57010800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:57008600-57011000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:57008600-57011000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:57008600-57011000	Weak transcription	Brain Anterior Caudate	brain
43	chr1:57008600-57011000	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:57008600-57011000	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:57008600-57011000	Enhancers	HepG2	liver
46	chr1:57008600-57012400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:57008600-57013200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr1:57008600-57014800	Weak transcription	Brain Germinal Matrix	brain
49	chr1:57008600-57015000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr1:57008800-57011400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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