Variant report

Variant	rs7146488
Chromosome Location	chr14:81781795-81781796
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81685596..81687723-chr14:81779481..81781884,2	MCF-7	breast:
2	chr14:81686550..81688217-chr14:81779859..81782471,2	K562	blood:
3	chr14:81779689..81782584-chr14:81913814..81916244,2	MCF-7	breast:
4	chr14:81780831..81784247-chr14:81787674..81790536,4	MCF-7	breast:
5	chr14:81684496..81687014-chr14:81780787..81782724,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140022	Chromatin interaction
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10138868	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10141989	0.90[ASN][1000 genomes]
rs10142173	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10149489	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11626709	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11626733	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12146979	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12588160	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12588234	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1885604	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1957542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1957543	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1957544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1957545	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1957548	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146244	0.95[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2371574	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28501387	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28622938	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903976	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4903977	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903979	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903980	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55744181	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574638	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6574639	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574640	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574641	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574642	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574643	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574644	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7145964	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7153097	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7153538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7153613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7154309	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155930	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7156146	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7156251	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7160788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8003051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8006006	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8010545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8021083	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs919378	0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7146488	ESRRB	cis	parietal	SCAN
rs7146488	ALKBH1	cis	parietal	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81771000-81785400	Weak transcription	Fetal Intestine Large	intestine
2	chr14:81771800-81785200	Weak transcription	Fetal Intestine Small	intestine
3	chr14:81773600-81790600	Weak transcription	K562	blood
4	chr14:81775600-81783000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:81776000-81783000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:81777200-81783000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:81777200-81784000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr14:81777200-81784200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:81777400-81783000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr14:81777600-81782800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:81778200-81782200	Enhancers	Fetal Brain Male	brain
12	chr14:81778400-81810800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:81778600-81782600	Weak transcription	Fetal Lung	lung
14	chr14:81778600-81783000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:81778600-81786000	Weak transcription	Stomach Mucosa	stomach
16	chr14:81778600-81786400	Weak transcription	Adipose Nuclei	Adipose
17	chr14:81778600-81789200	Weak transcription	Esophagus	oesophagus
18	chr14:81779000-81782800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:81779400-81781800	Weak transcription	Placenta	Placenta
20	chr14:81779600-81782800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:81779600-81783600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:81779600-81787000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:81779600-81788200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:81779800-81782800	Enhancers	HMEC	breast
25	chr14:81779800-81783200	Enhancers	NHEK	skin
26	chr14:81780200-81782400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:81780200-81782800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:81780200-81784200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:81780400-81783000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr14:81780400-81783000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr14:81780400-81786400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:81780600-81781800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr14:81780600-81782600	Enhancers	Brain Substantia Nigra	brain
34	chr14:81780600-81790400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr14:81780800-81782600	Enhancers	Fetal Muscle Leg	muscle
36	chr14:81780800-81783000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr14:81780800-81783000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr14:81780800-81783000	Enhancers	Fetal Kidney	kidney
39	chr14:81781000-81781800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr14:81781000-81782000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:81781000-81782400	Enhancers	Brain Hippocampus Middle	brain
42	chr14:81781000-81783000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:81781000-81798400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr14:81781200-81782000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr14:81781200-81782000	Enhancers	Spleen	Spleen
46	chr14:81781200-81782400	Enhancers	Brain Cingulate Gyrus	brain
47	chr14:81781200-81792400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:81781400-81781800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr14:81781400-81782000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:81781400-81782800	Enhancers	Pancreatic Islets	Pancreatic Islet

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