Variant report

Variant	rs1448032
Chromosome Location	chrX:154280805-154280806
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	chrX:154254541..154258340-chrX:154279440..154281968,3	MCF-7	breast:
2	chrX:154215001..154216652-chrX:154280458..154281967,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185010	Chromatin interaction
ENSG00000165775	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1128863	1.00[GIH][hapmap]
rs28370235	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5945128	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs5945133	0.81[YRI][hapmap]
rs5945137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs5945269	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.84[YRI][hapmap]
rs5945286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5987093	1.00[GIH][hapmap]
rs7881389	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1448032	SERPINA1	trans	lymphoblastoid	seeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:154256400-154293800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chrX:154256400-154297800	Weak transcription	Ovary	ovary
3	chrX:154256600-154282200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chrX:154256600-154284800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chrX:154256800-154285400	Weak transcription	Rectal Smooth Muscle	rectum
6	chrX:154257200-154285200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chrX:154257200-154298200	Weak transcription	HSMMtube	muscle
8	chrX:154257400-154285000	Weak transcription	HepG2	liver
9	chrX:154257400-154285200	Weak transcription	Stomach Smooth Muscle	stomach
10	chrX:154257600-154284800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chrX:154257600-154285000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chrX:154257600-154285000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chrX:154257600-154285200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chrX:154257600-154297800	Weak transcription	Right Ventricle	heart
15	chrX:154262800-154298400	Weak transcription	Brain Germinal Matrix	brain
16	chrX:154263800-154284800	Weak transcription	Placenta	Placenta
17	chrX:154263800-154289800	Weak transcription	HSMM	muscle
18	chrX:154264000-154285400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chrX:154264200-154285000	Weak transcription	Fetal Intestine Small	intestine
20	chrX:154264200-154297800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chrX:154264400-154285000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chrX:154264600-154284800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chrX:154264600-154285200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chrX:154264600-154285600	Weak transcription	Brain Substantia Nigra	brain
25	chrX:154264600-154297800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chrX:154264800-154283000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chrX:154267200-154297800	Weak transcription	Primary B cells from cord blood	blood
28	chrX:154267600-154285200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chrX:154268000-154297800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chrX:154269400-154285000	Weak transcription	GM12878-XiMat	blood
31	chrX:154270200-154297800	Weak transcription	Fetal Lung	lung
32	chrX:154271600-154285200	Weak transcription	Gastric	stomach
33	chrX:154271800-154285400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chrX:154272600-154281400	Weak transcription	Fetal Kidney	kidney
35	chrX:154272800-154281800	Weak transcription	Spleen	Spleen
36	chrX:154273800-154285200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chrX:154274000-154298400	Weak transcription	Esophagus	oesophagus
38	chrX:154274200-154285600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chrX:154274200-154285600	Weak transcription	Lung	lung
40	chrX:154274600-154285800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chrX:154275000-154288800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chrX:154275200-154285200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chrX:154275600-154285200	Weak transcription	Colon Smooth Muscle	Colon
44	chrX:154276200-154281800	Weak transcription	Adipose Nuclei	Adipose
45	chrX:154276200-154282800	Weak transcription	Fetal Thymus	thymus
46	chrX:154276200-154284800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chrX:154276200-154284800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chrX:154276200-154285400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chrX:154276200-154285400	Weak transcription	Right Atrium	heart
50	chrX:154276200-154298400	Weak transcription	Aorta	Aorta

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