Variant report

Variant	rs2728725
Chromosome Location	chrX:153963756-153963757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:153957602..153960616-chrX:153962109..153966477,4	K562	blood:
2	chrX:153960552..153964466-chrX:153976280..153979812,4	K562	blood:
3	chrX:153962966..153968885-chrX:153976280..153980562,6	K562	blood:

Variant related genes	Relation type
ENSG00000160219	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10127172	0.89[CHB][hapmap]
rs1800533	0.85[GIH][hapmap]
rs1848763	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]
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];0.94[MEX][hapmap];0.90[TSI][hapmap]
rs2664170	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]
rs2728526	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]
rs2728530	0.89[CHB][hapmap]
rs2728538	0.83[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];0.84[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];0.94[MEX][hapmap];0.90[TSI][hapmap]
rs5987016	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]
rs6643615	0.88[CHB][hapmap]
rs6643620	0.83[MEX][hapmap]
rs884840	0.89[CHB][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2728725	F8A1	cis	lymphoblastoid	seeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153951400-153967600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chrX:153952800-153967200	Enhancers	HUVEC	blood vessel
3	chrX:153953400-153964800	Enhancers	Right Atrium	heart
4	chrX:153953400-153966200	Enhancers	Colon Smooth Muscle	Colon
5	chrX:153954200-153963800	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chrX:153955000-153964800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chrX:153955800-153967000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chrX:153956800-153964000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chrX:153957000-153963800	Weak transcription	Esophagus	oesophagus
10	chrX:153957200-153963800	Weak transcription	NHEK	skin
11	chrX:153957200-153969200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chrX:153958400-153964400	Enhancers	Primary B cells from cord blood	blood
13	chrX:153959000-153963800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chrX:153959400-153965600	Enhancers	Primary T cells from cord blood	blood
15	chrX:153960200-153964400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chrX:153960200-153965200	Enhancers	Osteobl	bone
17	chrX:153960200-153967000	Enhancers	HSMM	muscle
18	chrX:153960200-153967400	Enhancers	Adipose Nuclei	Adipose
19	chrX:153960400-153965600	Weak transcription	Small Intestine	intestine
20	chrX:153960400-153966000	Enhancers	Fetal Heart	heart
21	chrX:153960400-153967200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chrX:153960600-153964200	Enhancers	Primary B cells from peripheral blood	blood
23	chrX:153960600-153965000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chrX:153960800-153964600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chrX:153960800-153966000	Enhancers	NHDF-Ad	bronchial
26	chrX:153961000-153964000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chrX:153961000-153964600	Enhancers	Hela-S3	cervix
28	chrX:153961200-153964200	Enhancers	K562	blood
29	chrX:153961400-153963800	Weak transcription	Pancreas	Pancrea
30	chrX:153961400-153964200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chrX:153961400-153964200	Enhancers	Brain Cingulate Gyrus	brain
32	chrX:153961400-153964400	Weak transcription	Stomach Mucosa	stomach
33	chrX:153961400-153967000	Enhancers	Muscle Satellite Cultured Cells	--
34	chrX:153962000-153963800	Enhancers	Rectal Smooth Muscle	rectum
35	chrX:153962200-153964000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chrX:153962200-153964200	Enhancers	Brain Angular Gyrus	brain
37	chrX:153962200-153964200	Flanking Active TSS	Dnd41	blood
38	chrX:153962200-153965200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chrX:153962200-153967000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chrX:153962200-153967000	Enhancers	Fetal Thymus	thymus
41	chrX:153962200-153967000	Enhancers	HSMMtube	muscle
42	chrX:153962200-153967200	Enhancers	HMEC	breast
43	chrX:153962400-153964400	Enhancers	Fetal Muscle Leg	muscle
44	chrX:153962400-153964400	Enhancers	Thymus	Thymus
45	chrX:153962400-153964600	Enhancers	Brain Hippocampus Middle	brain
46	chrX:153962400-153966000	Enhancers	Fetal Stomach	stomach
47	chrX:153962600-153964000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chrX:153962600-153964200	Enhancers	Brain Anterior Caudate	brain
49	chrX:153962600-153966200	Enhancers	Colonic Mucosa	Colon
50	chrX:153962800-153963800	Enhancers	Placenta	Placenta

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