Variant report

Variant	rs1422148
Chromosome Location	chr5:107526838-107526839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:107526145..107528996-chr5:107531733..107533472,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10515386	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956232	0.87[EUR][1000 genomes]
rs12163950	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12652018	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12654121	0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12654703	0.86[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12656256	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12656744	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12656817	0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12658221	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12659121	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12659135	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17160832	0.87[EUR][1000 genomes]
rs17160839	0.87[EUR][1000 genomes]
rs17160916	0.87[EUR][1000 genomes]
rs17161236	0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161254	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161284	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1965392	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2063422	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2122159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2416526	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs28658262	0.87[EUR][1000 genomes]
rs2910790	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2966787	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2966791	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2966801	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36062636	0.87[EUR][1000 genomes]
rs4423983	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4463170	0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4957754	1.00[EUR][1000 genomes]
rs6864666	0.87[EUR][1000 genomes]
rs6868458	0.87[EUR][1000 genomes]
rs6871553	0.87[EUR][1000 genomes]
rs6872125	0.87[EUR][1000 genomes]
rs6877104	0.87[EUR][1000 genomes]
rs72503488	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534281	chr5:107357579-107674981	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv830441	chr5:107450392-107614557	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv882684	chr5:107521677-107695558	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1422148	XBP1	trans	brain	seeQTL
rs1422148	ATF7IP2	trans	brain	seeQTL
rs1422148	ACBD3	trans	brain	seeQTL
rs1422148	HSPA6	trans	brain	seeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107475200-107527400	Weak transcription	Liver	Liver
2	chr5:107476000-107535600	Weak transcription	Left Ventricle	heart
3	chr5:107495400-107548800	Weak transcription	Pancreas	Pancrea
4	chr5:107496800-107528800	Weak transcription	Aorta	Aorta
5	chr5:107505400-107536800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:107506200-107529400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:107510600-107532000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:107511000-107528000	Weak transcription	Fetal Intestine Small	intestine
9	chr5:107511400-107548400	Weak transcription	Primary B cells from cord blood	blood
10	chr5:107516200-107584800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:107516800-107551400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:107517000-107529000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:107517000-107571800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr5:107518000-107532000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:107518800-107527400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr5:107519400-107527000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:107519600-107527400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:107521400-107527400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:107521400-107528800	Weak transcription	Ovary	ovary
20	chr5:107521400-107528800	Weak transcription	HSMM	muscle
21	chr5:107521400-107529000	Weak transcription	Fetal Stomach	stomach
22	chr5:107521400-107529400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:107521600-107528600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:107521800-107536400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr5:107522000-107527600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:107522400-107535400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr5:107525200-107528800	Weak transcription	HSMMtube	muscle
28	chr5:107526000-107550800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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