Variant report

Variant	rs2815355
Chromosome Location	chr1:67485034-67485035
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	chr1:67482953..67485529-chr1:67496272..67498611,2	K562	blood:

Variant related genes	Relation type
ENSG00000116704	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10749766	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10789219	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10889651	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11208971	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11208973	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11208974	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1121824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562761	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12742428	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1535365	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1570838	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1925409	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1925410	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2065002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755243	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755247	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2755251	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2755253	0.96[ASN][1000 genomes]
rs2755254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755266	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2755270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755271	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815349	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815360	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2815362	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2815363	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2815364	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2815365	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2815366	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2815367	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2815368	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2815374	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3736905	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3929738	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4486425	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4581250	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4582760	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4655660	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4655661	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4655662	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6657065	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2815355	SLC35D1	Cis_1M	lymphoblastoid	RTeQTL
rs2815355	MIER1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 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	chr1:67460000-67485200	Weak transcription	Esophagus	oesophagus
9	chr1:67462400-67508400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:67465200-67502400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:67465200-67506400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:67468000-67485600	Weak transcription	Aorta	Aorta
13	chr1:67468600-67501800	Weak transcription	Psoas Muscle	Psoas
14	chr1:67470800-67505400	Weak transcription	Gastric	stomach
15	chr1:67471200-67486600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:67471800-67485200	Weak transcription	Pancreas	Pancrea
17	chr1:67471800-67485400	Weak transcription	Right Ventricle	heart
18	chr1:67471800-67503800	Weak transcription	Brain Substantia Nigra	brain
19	chr1:67472400-67502400	Weak transcription	Fetal Brain Male	brain
20	chr1:67473000-67485200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:67473800-67518000	Weak transcription	A549	lung
22	chr1:67474600-67500800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:67476000-67486000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:67476000-67504600	Weak transcription	Lung	lung
25	chr1:67476000-67508400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:67478000-67485200	Weak transcription	Placenta	Placenta
27	chr1:67478000-67508800	Weak transcription	Colonic Mucosa	Colon
28	chr1:67479800-67485600	Weak transcription	Fetal Brain Female	brain
29	chr1:67479800-67503200	Weak transcription	K562	blood
30	chr1:67480800-67489200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:67481000-67490600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:67481400-67485200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:67481400-67485600	Weak transcription	Fetal Intestine Small	intestine
34	chr1:67481400-67488800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:67482000-67485600	Strong transcription	Liver	Liver
36	chr1:67482600-67487200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr1:67482600-67491000	Strong transcription	Primary T cells from cord blood	blood
38	chr1:67482600-67498800	Strong transcription	Fetal Intestine Large	intestine
39	chr1:67483200-67485200	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr1:67483200-67485600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:67483200-67486000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:67483200-67486600	Strong transcription	Fetal Kidney	kidney
43	chr1:67483200-67487000	Strong transcription	Primary hematopoietic stem cells	blood
44	chr1:67483200-67488000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr1:67483200-67488200	Strong transcription	Dnd41	blood
46	chr1:67483200-67488600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr1:67483200-67488800	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr1:67483200-67489000	Strong transcription	Primary B cells from cord blood	blood
49	chr1:67483400-67485200	Strong transcription	HSMM	muscle
50	chr1:67483400-67485400	Strong transcription	Adipose Nuclei	Adipose

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