Variant report

Variant	rs1157168
Chromosome Location	chr1:211909230-211909231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211907855..211909919-chr1:211956188..211957955,2	K562	blood:
2	chr1:211909223..211910773-chr1:212004140..212006713,2	K562	blood:
3	chr1:211872037..211874391-chr1:211908147..211910585,2	MCF-7	breast:
4	chr1:211908649..211910536-chr1:211924559..211927558,2	K562	blood:
5	chr1:211907600..211909602-chr1:212100181..212103074,3	MCF-7	breast:
6	chr1:211907596..211909840-chr1:211915104..211917699,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229258	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10863929	0.80[ASN][1000 genomes]
rs11119807	0.94[ASN][1000 genomes]
rs11119813	0.89[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11487823	0.85[ASN][1000 genomes]
rs12059988	0.82[ASN][1000 genomes]
rs12076991	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12077561	0.85[ASN][1000 genomes]
rs12084756	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12088743	0.94[ASN][1000 genomes]
rs12090490	0.85[ASN][1000 genomes]
rs12095938	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12410970	0.94[ASN][1000 genomes]
rs28800280	0.80[ASN][1000 genomes]
rs2970578	0.86[JPT][hapmap]
rs3738197	0.89[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3862952	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4447046	0.80[ASN][1000 genomes]
rs4623773	0.80[ASN][1000 genomes]
rs56132364	0.80[ASN][1000 genomes]
rs61828246	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61828259	0.94[ASN][1000 genomes]
rs61828491	0.85[ASN][1000 genomes]
rs61828492	0.80[ASN][1000 genomes]
rs6540709	0.89[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6664082	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6678582	0.80[ASN][1000 genomes]
rs6684049	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6704043	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs701910	0.88[EUR][1000 genomes]
rs72747039	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72747051	0.88[ASN][1000 genomes]
rs7518896	0.89[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7524009	0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7534335	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7547097	0.86[JPT][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1157168	RD3	cis	cerebellum	SCAN
rs1157168	LPGAT1	cis	cerebellum	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211879200-211913600	Weak transcription	Right Atrium	heart
2	chr1:211904600-211912600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:211904600-211913800	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr1:211904800-211913400	Enhancers	Brain Substantia Nigra	brain
5	chr1:211905400-211910600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:211905400-211910800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:211905600-211910400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:211905800-211910400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:211906800-211912400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:211907000-211920800	Weak transcription	Aorta	Aorta
11	chr1:211907200-211909800	Enhancers	Stomach Mucosa	stomach
12	chr1:211907600-211909400	Enhancers	Pancreas	Pancrea
13	chr1:211907600-211909800	Enhancers	K562	blood
14	chr1:211907800-211910800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:211907800-211910800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:211907800-211914400	Enhancers	Brain Anterior Caudate	brain
17	chr1:211908000-211913200	Enhancers	Brain Angular Gyrus	brain
18	chr1:211908200-211909600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:211908200-211910000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:211908200-211911200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:211908400-211909600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:211908400-211909600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:211908400-211909600	Enhancers	Esophagus	oesophagus
24	chr1:211908400-211909800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:211908400-211909800	Enhancers	HUVEC	blood vessel
26	chr1:211908400-211910000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:211908400-211910200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:211908400-211910800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:211908400-211912800	Enhancers	HMEC	breast
30	chr1:211908400-211913400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:211908600-211909400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:211908600-211909400	Enhancers	Duodenum Mucosa	Duodenum
33	chr1:211908600-211909400	Enhancers	Ovary	ovary
34	chr1:211908600-211909400	Flanking Active TSS	NHEK	skin
35	chr1:211908600-211909800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:211908600-211909800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:211908600-211909800	Flanking Active TSS	Hela-S3	cervix
38	chr1:211908600-211909800	Enhancers	HSMMtube	muscle
39	chr1:211908600-211909800	Enhancers	NHLF	lung
40	chr1:211908600-211910000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:211908600-211910000	Enhancers	NH-A	brain
42	chr1:211908600-211910600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:211908800-211909600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:211908800-211909600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:211908800-211909600	Enhancers	HSMM	muscle
46	chr1:211908800-211909600	Enhancers	NHDF-Ad	bronchial
47	chr1:211908800-211909800	Enhancers	Adipose Nuclei	Adipose
48	chr1:211908800-211909800	Enhancers	Osteobl	bone
49	chr1:211908800-211910800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:211908800-211910800	Enhancers	Placenta Amnion	Placenta Amnion

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