Variant report

Variant	rs12434151
Chromosome Location	chr14:31029185-31029186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31027330..31031100-chr14:31087785..31093139,9	MCF-7	breast:
2	chr14:31027121..31031753-chr14:31090278..31094067,6	K562	blood:
3	chr14:31028766..31030922-chr14:31085217..31087715,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092108	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10130830	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10142331	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10146357	0.81[CHB][hapmap]
rs10147257	0.81[CHB][hapmap]
rs10147505	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1123860	0.81[CHB][hapmap]
rs11625381	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11627421	0.81[CHB][hapmap]
rs11628700	0.81[CHB][hapmap]
rs11846408	0.80[CHB][hapmap]
rs11846420	1.00[ASW][hapmap];0.87[CEU][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs12432098	1.00[YRI][hapmap]
rs12882931	0.81[CHB][hapmap]
rs151123	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs170663	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs170665	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs172946	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs179287	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs183467	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2045180	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2070339	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2070340	0.81[CHB][hapmap]
rs2273521	0.81[CHB][hapmap]
rs2273522	0.80[CHB][hapmap]
rs229141	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs229143	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs229144	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs229145	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs229150	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs229152	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs229154	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs229155	1.00[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.86[LWK][hapmap];0.87[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs229156	0.94[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs229161	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs229162	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs229171	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs229173	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs229176	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs229179	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs229184	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs229190	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs229194	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs229195	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs229200	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs229201	1.00[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs229206	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs229207	0.85[ASN][1000 genomes]
rs229209	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs229211	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs229221	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs229222	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs229227	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs229228	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs229231	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs229235	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs229236	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs229237	1.00[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs229240	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs229243	0.92[EUR][1000 genomes]
rs229247	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs230340	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[ASN][1000 genomes]
rs230343	0.85[ASN][1000 genomes]
rs230351	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs230353	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs230356	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs230364	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs230366	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2378780	0.81[CHB][hapmap]
rs2378781	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2378782	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34558066	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35069045	0.81[CHB][hapmap]
rs4430662	0.81[CHB][hapmap]
rs448175	1.00[ASW][hapmap];0.95[CEU][hapmap];0.84[CHB][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4981767	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4981770	0.84[CHB][hapmap];1.00[YRI][hapmap]
rs58049	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61976711	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6571361	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7141161	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7141333	0.81[CHB][hapmap]
rs7142948	0.84[EUR][1000 genomes]
rs7144204	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7147530	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7152417	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7153509	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7153747	0.96[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7154847	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7158351	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs761956	0.81[CHB][hapmap]
rs8006314	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs8008094	0.81[CHB][hapmap]
rs8012494	1.00[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.84[ASN][1000 genomes]
rs8013017	0.81[CHB][hapmap]
rs8015536	0.81[CHB][hapmap]
rs9322864	0.81[CHB][hapmap]
rs9806111	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12434151	G2E3	cis	parietal	SCAN
rs12434151	SCFD1	cis	Whole Blood	GTEx
rs12434151	SCFD1	cis	Thyroid	GTEx
rs12434151	SCFD1	cis	parietal	SCAN
rs12434151	SCFD1	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31027400-31029400	Active TSS	Esophagus	oesophagus
2	chr14:31027400-31029800	Active TSS	NHDF-Ad	bronchial
3	chr14:31027600-31029200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:31027600-31029200	Active TSS	Aorta	Aorta
5	chr14:31027600-31029200	Active TSS	Brain Anterior Caudate	brain
6	chr14:31027600-31029200	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr14:31027600-31029200	Active TSS	Fetal Intestine Small	intestine
8	chr14:31027600-31029200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr14:31027600-31029400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr14:31027600-31029400	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr14:31027600-31029400	Active TSS	Colonic Mucosa	Colon
12	chr14:31027600-31029400	Active TSS	Fetal Intestine Large	intestine
13	chr14:31027600-31029400	Active TSS	Ovary	ovary
14	chr14:31027600-31029400	Active TSS	Psoas Muscle	Psoas
15	chr14:31027600-31029400	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr14:31027600-31029400	Active TSS	Stomach Smooth Muscle	stomach
17	chr14:31027600-31029600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr14:31027600-31029600	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr14:31027600-31029600	Active TSS	Fetal Kidney	kidney
20	chr14:31027600-31029800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:31027600-31029800	Active TSS	Fetal Muscle Trunk	muscle
22	chr14:31027600-31029800	Active TSS	Fetal Muscle Leg	muscle
23	chr14:31027600-31029800	Active TSS	Fetal Stomach	stomach
24	chr14:31027600-31030000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:31027600-31030000	Active TSS	Fetal Brain Male	brain
26	chr14:31027600-31030000	Active TSS	Fetal Brain Female	brain
27	chr14:31027600-31030000	Active TSS	Right Atrium	heart
28	chr14:31027600-31030000	Active TSS	NHLF	lung
29	chr14:31027600-31030200	Active TSS	H1 Cell Line	embryonic stem cell
30	chr14:31027600-31030600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:31027600-31031000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:31027800-31029200	Active TSS	Placenta	Placenta
33	chr14:31027800-31029200	Active TSS	Lung	lung
34	chr14:31027800-31029200	Active TSS	Pancreas	Pancrea
35	chr14:31027800-31029200	Active TSS	Placenta Amnion	Placenta Amnion
36	chr14:31027800-31029200	Bivalent/Poised TSS	HepG2	liver
37	chr14:31027800-31029400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:31027800-31029400	Active TSS	Brain Angular Gyrus	brain
39	chr14:31027800-31029400	Active TSS	Gastric	stomach
40	chr14:31027800-31029400	Active TSS	Left Ventricle	heart
41	chr14:31027800-31029400	Active TSS	Right Ventricle	heart
42	chr14:31027800-31029400	Active TSS	Small Intestine	intestine
43	chr14:31027800-31029600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:31027800-31029600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:31027800-31029600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:31027800-31029600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:31027800-31029600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:31027800-31029600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:31027800-31029600	Active TSS	Brain Germinal Matrix	brain
50	chr14:31027800-31029800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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