Variant report

Variant	rs7538922
Chromosome Location	chr1:67504042-67504043
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	chr1:67496580..67498692-chr1:67502548..67504321,2	K562	blood:
2	chr1:67503128..67505366-chr1:67518733..67521202,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116704	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10489633	0.87[ASN][1000 genomes]
rs1074265	0.87[ASN][1000 genomes]
rs11208980	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11208986	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11208993	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12059957	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12062086	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12069383	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12074407	0.85[EUR][1000 genomes]
rs12078209	0.85[EUR][1000 genomes]
rs12079643	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12081097	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12082330	0.87[ASN][1000 genomes]
rs12082503	0.87[ASN][1000 genomes]
rs12090955	0.85[EUR][1000 genomes]
rs12091194	0.87[ASN][1000 genomes]
rs17097312	0.85[EUR][1000 genomes]
rs17129627	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3924795	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3924796	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41356950	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56774527	0.87[ASN][1000 genomes]
rs58096117	0.87[ASN][1000 genomes]
rs58717164	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6588226	1.00[EUR][1000 genomes]
rs6588234	0.87[ASN][1000 genomes]
rs6681625	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6689240	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67073063	0.87[ASN][1000 genomes]
rs67471683	0.87[ASN][1000 genomes]
rs7517647	0.87[ASN][1000 genomes]
rs7520341	0.87[ASN][1000 genomes]
rs7524757	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537490	0.85[EUR][1000 genomes]
rs7547791	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7551021	0.85[EUR][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
rs7538922	SLC35D1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67451200-67506200	Weak transcription	Hela-S3	cervix
2	chr1:67455400-67509400	Weak transcription	Spleen	Spleen
3	chr1:67462400-67508400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:67465200-67506400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:67470800-67505400	Weak transcription	Gastric	stomach
6	chr1:67473800-67518000	Weak transcription	A549	lung
7	chr1:67476000-67504600	Weak transcription	Lung	lung
8	chr1:67476000-67508400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:67478000-67508800	Weak transcription	Colonic Mucosa	Colon
10	chr1:67484000-67518400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:67485400-67505800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:67485800-67504600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:67485800-67506200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:67485800-67507600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:67486000-67509600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:67486200-67516800	Weak transcription	NHEK	skin
17	chr1:67486800-67505400	Weak transcription	Left Ventricle	heart
18	chr1:67486800-67509200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:67486800-67515800	Weak transcription	Stomach Mucosa	stomach
20	chr1:67487000-67505400	Weak transcription	Esophagus	oesophagus
21	chr1:67487200-67505800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:67487600-67504400	Weak transcription	Fetal Stomach	stomach
23	chr1:67487800-67505800	Weak transcription	Aorta	Aorta
24	chr1:67487800-67516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:67488400-67506000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:67488400-67506400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:67488400-67518000	Weak transcription	Right Ventricle	heart
28	chr1:67490800-67506000	Weak transcription	HSMMtube	muscle
29	chr1:67490800-67508800	Weak transcription	Pancreas	Pancrea
30	chr1:67493600-67505200	Weak transcription	Fetal Intestine Small	intestine
31	chr1:67493800-67506000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:67495000-67506600	Weak transcription	HMEC	breast
33	chr1:67495400-67507200	Weak transcription	HUVEC	blood vessel
34	chr1:67495400-67517000	Weak transcription	Small Intestine	intestine
35	chr1:67497000-67504200	Weak transcription	Osteobl	bone
36	chr1:67497600-67505000	Weak transcription	Fetal Heart	heart
37	chr1:67500200-67517200	Strong transcription	HSMM	muscle
38	chr1:67500400-67516400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr1:67500800-67506000	Weak transcription	GM12878-XiMat	blood
40	chr1:67500800-67509000	Strong transcription	Liver	Liver
41	chr1:67500800-67515400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr1:67500800-67516000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:67500800-67516200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:67500800-67516600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:67500800-67517000	Strong transcription	Adipose Nuclei	Adipose
46	chr1:67500800-67517600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:67501000-67517400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:67501400-67516000	Strong transcription	Fetal Intestine Large	intestine
49	chr1:67501400-67516400	Strong transcription	NH-A	brain
50	chr1:67501600-67506400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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