Variant report

Variant	rs1016316
Chromosome Location	chr2:20235109-20235110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20233333..20235780-chr2:20251551..20254111,2	K562	blood:
2	chr2:20235025..20246171-chr2:20248104..20254249,17	MCF-7	breast:
3	chr17:57696551..57698653-chr2:20234244..20235991,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141367	Chromatin interaction
ENSG00000068697	Chromatin interaction
ENSG00000223734	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11674251	0.87[CEU][hapmap];0.87[CHD][hapmap]
rs11689320	0.93[EUR][1000 genomes]
rs11689431	0.82[CEU][hapmap]
rs11694170	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs11695154	0.92[EUR][1000 genomes]
rs1191805	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1191809	0.83[AMR][1000 genomes]
rs1191811	0.83[AMR][1000 genomes]
rs1191812	0.86[CHB][hapmap];0.92[CHD][hapmap];0.83[AMR][1000 genomes]
rs1191817	0.90[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12988954	0.94[CEU][hapmap]
rs1473890	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1513830	1.00[CEU][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs1513831	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs16987338	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs2244939	0.86[CHB][hapmap];0.92[CHD][hapmap];0.83[AMR][1000 genomes]
rs34539547	1.00[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs36071721	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3731673	1.00[CEU][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs3769759	0.93[EUR][1000 genomes]
rs3769760	1.00[CEU][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs3769762	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs62109431	0.93[EUR][1000 genomes]
rs6706375	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6720508	0.90[EUR][1000 genomes]
rs7558777	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7558988	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7570360	0.94[EUR][1000 genomes]
rs7587612	0.88[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1016316	SLC47A1	trans	brain	seeQTL
rs1016316	SLPI	trans	brain	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20221400-20249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:20225400-20240600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:20226600-20236200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:20226800-20236200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:20227000-20236200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:20227000-20239800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:20227000-20240200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:20227000-20240200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:20227000-20240600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:20227000-20240800	Strong transcription	Placenta	Placenta
11	chr2:20227000-20241000	Strong transcription	Liver	Liver
12	chr2:20227000-20242000	Strong transcription	Primary T cells from cord blood	blood
13	chr2:20227000-20242400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:20227200-20235800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:20227200-20236000	Strong transcription	Primary B cells from cord blood	blood
16	chr2:20227200-20240200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:20227200-20240800	Strong transcription	Fetal Lung	lung
18	chr2:20227200-20241000	Strong transcription	Fetal Thymus	thymus
19	chr2:20227200-20242200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:20227400-20240800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:20227400-20240800	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:20227400-20240800	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:20227600-20236000	Weak transcription	Stomach Mucosa	stomach
24	chr2:20227600-20240400	Strong transcription	Adipose Nuclei	Adipose
25	chr2:20227600-20241000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:20227800-20236200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr2:20227800-20241200	Strong transcription	Fetal Intestine Large	intestine
28	chr2:20227800-20242200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:20228000-20237000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:20228000-20240200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:20228000-20240200	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr2:20228000-20240600	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:20228000-20242000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr2:20228200-20240000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:20228200-20240800	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr2:20228200-20240800	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:20228200-20242600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:20228400-20240200	Strong transcription	Osteobl	bone
39	chr2:20228400-20240800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:20228400-20241400	Strong transcription	Dnd41	blood
41	chr2:20228600-20238000	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:20228600-20240400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:20228800-20235400	Strong transcription	Fetal Brain Male	brain
44	chr2:20228800-20236000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:20228800-20240800	Strong transcription	Brain Anterior Caudate	brain
46	chr2:20229600-20240800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:20229800-20238200	Strong transcription	Brain Cingulate Gyrus	brain
48	chr2:20229800-20240600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:20229800-20240800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:20229800-20241400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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