Variant report

Variant	rs1848763
Chromosome Location	chrX:153950635-153950636
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	X:153948126-153954192..X:153967468-153979902	Hela-S3	cervix:
2	X:153948126-153954192..X:153989469-153994716	Hela-S3	cervix:
3	X:153681712-153701576..X:153948126-153954192	Hela-S3	cervix:
4	X:153948126-153954192..X:154109708-154117881	Hela-S3	cervix:
5	chrX:153945382..153951855-chrX:153952436..153958335,9	K562	blood:
6	chrX:153946602..153948265-chrX:153948807..153951805,3	K562	blood:
7	X:153532787-153537523..X:153948126-153954192	Hela-S3	cervix:
8	X:153586280-153597086..X:153948126-153954192	Hela-S3	cervix:
9	X:153948126-153954192..X:154298909-154305587	Hela-S3	cervix:
10	X:153948126-153954192..X:154015910-154019964	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000198082	Chromatin interaction
ENSG00000130826	Chromatin interaction
ENSG00000130830	Chromatin interaction
ENSG00000185010	Chromatin interaction
ENSG00000130827	Chromatin interaction
ENSG00000160219	Chromatin interaction
ENSG00000007350	Chromatin interaction
ENSG00000182712	Chromatin interaction
ENSG00000221533	Chromatin interaction
ENSG00000214827	Chromatin interaction
ENSG00000185515	Chromatin interaction
ENSG00000197932	Chromatin interaction
ENSG00000196924	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10127172	0.89[CHB][hapmap]
rs1800533	0.85[GIH][hapmap]
rs2063320	0.85[GIH][hapmap];0.88[JPT][hapmap]
rs2664169	0.94[CEU][hapmap];0.88[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2664170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2728526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2728530	0.89[CHB][hapmap]
rs2728538	0.81[MEX][hapmap]
rs2728725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap]
rs4326559	0.89[CHB][hapmap]
rs4431759	0.89[CHB][hapmap]
rs4526543	0.89[CHB][hapmap]
rs5945222	0.89[CHB][hapmap]
rs5945223	0.89[CHB][hapmap]
rs5945224	0.89[CHB][hapmap]
rs5945232	0.88[CEU][hapmap];0.88[JPT][hapmap];0.95[TSI][hapmap]
rs5945233	0.94[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap]
rs5987005	0.88[CHB][hapmap]
rs5987011	0.89[CHB][hapmap]
rs5987015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs5987016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs6643615	0.88[CHB][hapmap]
rs6643620	0.88[MEX][hapmap]
rs884840	0.89[CHB][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1848763	F8A1	cis	lymphoblastoid	seeQTL
rs1848763	F8A2	cis	lymphoblastoid	seeQTL
rs1848763	F8A3	cis	lymphoblastoid	seeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153924200-153955400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chrX:153925000-153957200	Weak transcription	Brain Hippocampus Middle	brain
3	chrX:153936400-153955400	Weak transcription	Psoas Muscle	Psoas
4	chrX:153941400-153961000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chrX:153941600-153957000	Weak transcription	Aorta	Aorta
6	chrX:153946000-153952800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chrX:153946800-153956400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chrX:153947800-153951800	Weak transcription	Left Ventricle	heart
9	chrX:153947800-153951800	Weak transcription	Lung	lung
10	chrX:153947800-153952200	Weak transcription	Right Ventricle	heart
11	chrX:153947800-153953400	Weak transcription	Right Atrium	heart
12	chrX:153947800-153955400	Weak transcription	Fetal Muscle Leg	muscle
13	chrX:153948000-153956400	Weak transcription	Spleen	Spleen
14	chrX:153948000-153962400	Weak transcription	Thymus	Thymus
15	chrX:153948200-153951400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chrX:153948200-153951600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chrX:153948200-153955000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chrX:153948200-153955800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chrX:153948400-153952800	Weak transcription	Primary B cells from peripheral blood	blood
20	chrX:153948400-153953400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chrX:153948400-153953600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chrX:153948400-153955800	Weak transcription	Primary B cells from cord blood	blood
23	chrX:153948400-153956400	Weak transcription	Fetal Thymus	thymus
24	chrX:153948600-153951800	Weak transcription	Duodenum Mucosa	Duodenum
25	chrX:153948600-153952000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chrX:153948600-153952800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chrX:153948600-153952800	Weak transcription	HUVEC	blood vessel
28	chrX:153948600-153953400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chrX:153949200-153953200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chrX:153949400-153951400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chrX:153949400-153951400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chrX:153949400-153951800	Weak transcription	Primary hematopoietic stem cells	blood
33	chrX:153949800-153951000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chrX:153949800-153951400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chrX:153950000-153951600	Weak transcription	K562	blood
36	chrX:153950000-153952800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chrX:153950200-153952000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chrX:153950400-153951600	Weak transcription	Dnd41	blood
39	chrX:153950400-153952200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chrX:153950400-153952600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chrX:153950600-153952800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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