Variant report

Variant	rs11208989
Chromosome Location	chr1:67484563-67484564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67482953..67486584-chr1:67495680..67498611,3	K562	blood:
2	chr1:67483827..67485635-chr1:67517857..67519574,2	K562	blood:
3	chr1:67482944..67485635-chr1:67517857..67519682,3	K562	blood:
4	chr1:67468960..67471797-chr1:67482743..67484968,2	K562	blood:
5	chr1:67482953..67485529-chr1:67496272..67498611,2	K562	blood:

Variant related genes	Relation type
ENSG00000116704	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10489633	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1074265	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11208977	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208980	0.87[ASN][1000 genomes]
rs11208986	0.87[ASN][1000 genomes]
rs11208987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208988	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12059957	0.87[ASN][1000 genomes]
rs12060891	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12061148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12069383	0.87[ASN][1000 genomes]
rs12070382	0.83[ASN][1000 genomes]
rs12073258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12079643	0.87[ASN][1000 genomes]
rs12081097	0.87[ASN][1000 genomes]
rs12082330	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12082503	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091194	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17129589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985809	0.91[ASN][1000 genomes]
rs3924795	0.87[ASN][1000 genomes]
rs3924796	0.87[ASN][1000 genomes]
rs41356950	0.87[ASN][1000 genomes]
rs56774527	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57476475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58083543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58096117	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58465390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58717164	0.87[ASN][1000 genomes]
rs6588231	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588232	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588234	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6689240	0.87[ASN][1000 genomes]
rs6698599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67073063	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67471683	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7517647	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7520341	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7547791	0.87[ASN][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	nsv461751	chr1:67479598-67689036	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv546445	chr1:67479598-67689036	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11208989	SLC35D1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67441600-67485200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:67449400-67501800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:67450600-67485200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:67451200-67506200	Weak transcription	Hela-S3	cervix
5	chr1:67455200-67495000	Weak transcription	Small Intestine	intestine
6	chr1:67455400-67509400	Weak transcription	Spleen	Spleen
7	chr1:67455800-67485600	Weak transcription	HMEC	breast
8	chr1:67456400-67484800	Weak transcription	HUVEC	blood vessel
9	chr1:67460000-67485200	Weak transcription	Esophagus	oesophagus
10	chr1:67462400-67508400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:67465200-67502400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:67465200-67506400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:67468000-67485600	Weak transcription	Aorta	Aorta
14	chr1:67468600-67501800	Weak transcription	Psoas Muscle	Psoas
15	chr1:67469400-67485000	Weak transcription	HSMMtube	muscle
16	chr1:67470800-67505400	Weak transcription	Gastric	stomach
17	chr1:67471200-67486600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:67471800-67485200	Weak transcription	Pancreas	Pancrea
19	chr1:67471800-67485400	Weak transcription	Right Ventricle	heart
20	chr1:67471800-67503800	Weak transcription	Brain Substantia Nigra	brain
21	chr1:67472400-67502400	Weak transcription	Fetal Brain Male	brain
22	chr1:67473000-67485200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:67473800-67518000	Weak transcription	A549	lung
24	chr1:67474200-67485000	Weak transcription	HepG2	liver
25	chr1:67474600-67500800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:67476000-67486000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:67476000-67504600	Weak transcription	Lung	lung
28	chr1:67476000-67508400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:67478000-67485200	Weak transcription	Placenta	Placenta
30	chr1:67478000-67508800	Weak transcription	Colonic Mucosa	Colon
31	chr1:67479800-67484800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:67479800-67484800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:67479800-67485000	Weak transcription	NHEK	skin
34	chr1:67479800-67485600	Weak transcription	Fetal Brain Female	brain
35	chr1:67479800-67503200	Weak transcription	K562	blood
36	chr1:67480800-67489200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:67481000-67490600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:67481400-67485200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:67481400-67485600	Weak transcription	Fetal Intestine Small	intestine
40	chr1:67481400-67488800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:67482000-67485600	Strong transcription	Liver	Liver
42	chr1:67482600-67487200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr1:67482600-67491000	Strong transcription	Primary T cells from cord blood	blood
44	chr1:67482600-67498800	Strong transcription	Fetal Intestine Large	intestine
45	chr1:67483200-67485000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:67483200-67485200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr1:67483200-67485600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:67483200-67486000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr1:67483200-67486600	Strong transcription	Fetal Kidney	kidney
50	chr1:67483200-67487000	Strong transcription	Primary hematopoietic stem cells	blood

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