Variant report

Variant	rs4926868
Chromosome Location	chr1:47910622-47910623
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47910388..47913374-chr1:47915734..47917364,2	K562	blood:
2	chr1:47909689..47914443-chr1:47914601..47918861,5	K562	blood:
3	chr1:47909602..47912152-chr1:48180599..48183294,2	K562	blood:
4	chr1:47909602..47912589-chr1:48194233..48196789,2	K562	blood:
5	chr1:47901811..47902631-chr1:47910399..47911268,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11211529	1.00[EUR][1000 genomes]
rs11211536	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12021515	1.00[EUR][1000 genomes]
rs12026379	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12030146	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12032801	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12049163	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12049416	1.00[EUR][1000 genomes]
rs1680019	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17103177	1.00[EUR][1000 genomes]
rs17103179	1.00[EUR][1000 genomes]
rs17103196	1.00[EUR][1000 genomes]
rs1765156	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1813427	1.00[EUR][1000 genomes]
rs2253511	1.00[EUR][1000 genomes]
rs2506984	1.00[EUR][1000 genomes]
rs2622906	1.00[EUR][1000 genomes]
rs2622911	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2820966	0.89[AFR][1000 genomes]
rs3738317	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs472993	1.00[AFR][1000 genomes]
rs479363	0.95[AFR][1000 genomes]
rs495482	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs506329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs522768	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527133	0.95[AFR][1000 genomes]
rs527430	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs557101	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs567097	0.80[AFR][1000 genomes]
rs59366267	0.82[ASN][1000 genomes]
rs60042036	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61784813	0.86[ASN][1000 genomes]
rs642750	1.00[EUR][1000 genomes]
rs6665542	0.89[AFR][1000 genomes]
rs6683513	0.87[EUR][1000 genomes]
rs6688278	0.87[EUR][1000 genomes]
rs66904716	1.00[EUR][1000 genomes]
rs6703935	1.00[EUR][1000 genomes]
rs693036	1.00[EUR][1000 genomes]
rs72480616	1.00[EUR][1000 genomes]
rs72553947	1.00[EUR][1000 genomes]
rs72553949	1.00[EUR][1000 genomes]
rs72637985	0.87[EUR][1000 genomes]
rs9436456	1.00[AFR][1000 genomes]
rs9436902	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871961	chr1:47875627-47912628	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47907600-47918400	Weak transcription	Aorta	Aorta
2	chr1:47908800-47911200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
3	chr1:47909000-47911200	Bivalent/Poised TSS	Fetal Kidney	kidney
4	chr1:47909000-47912000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:47909200-47911000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:47909400-47910800	Enhancers	Lung	lung
7	chr1:47909400-47911400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
8	chr1:47909600-47910800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
9	chr1:47909600-47911800	Bivalent/Poised TSS	Colonic Mucosa	Colon
10	chr1:47909800-47910800	Bivalent/Poised TSS	Small Intestine	intestine
11	chr1:47909800-47911200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
12	chr1:47909800-47911200	Bivalent Enhancer	Placenta	Placenta
13	chr1:47909800-47911400	Bivalent Enhancer	Fetal Brain Male	brain
14	chr1:47910000-47910800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:47910000-47910800	Enhancers	Gastric	stomach
16	chr1:47910000-47910800	Flanking Bivalent TSS/Enh	HSMM	muscle
17	chr1:47910000-47911000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:47910000-47911000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:47910000-47911000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
20	chr1:47910000-47911000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
21	chr1:47910000-47911000	Bivalent Enhancer	Liver	Liver
22	chr1:47910000-47911000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
23	chr1:47910000-47911000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
24	chr1:47910000-47911000	Bivalent Enhancer	HUVEC	blood vessel
25	chr1:47910000-47911200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr1:47910000-47911200	Bivalent Enhancer	Brain Anterior Caudate	brain
27	chr1:47910000-47911200	Bivalent Enhancer	Fetal Lung	lung
28	chr1:47910000-47911400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
29	chr1:47910000-47911400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
30	chr1:47910200-47910800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:47910200-47910800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:47910200-47910800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
33	chr1:47910200-47910800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:47910200-47910800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:47910200-47910800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:47910200-47910800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
37	chr1:47910200-47910800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
38	chr1:47910200-47910800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr1:47910200-47910800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
40	chr1:47910200-47910800	Flanking Active TSS	Right Atrium	heart
41	chr1:47910200-47910800	Bivalent Enhancer	Stomach Mucosa	stomach
42	chr1:47910200-47910800	Bivalent Enhancer	NHDF-Ad	bronchial
43	chr1:47910200-47910800	Flanking Bivalent TSS/Enh	NHEK	skin
44	chr1:47910200-47910800	Bivalent/Poised TSS	NHLF	lung
45	chr1:47910200-47911000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
46	chr1:47910200-47911000	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
47	chr1:47910200-47911000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:47910200-47911000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
49	chr1:47910200-47911000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:47910200-47911000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin

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