Variant report

Variant	rs7575639
Chromosome Location	chr2:55369847-55369848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55272140..55279868-chr2:55356344..55371606,28	K562	blood:
2	chr2:55366681..55370422-chr2:55372358..55376649,9	K562	blood:
3	chr2:55366215..55370313-chr2:55376970..55382641,6	K562	blood:
4	chr2:55366215..55370139-chr2:55381125..55383848,4	K562	blood:
5	chr2:55368832..55370528-chr2:55373910..55375514,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10194457	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892071	0.83[JPT][hapmap]
rs12713288	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs4233958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4672022	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56056614	0.90[ASN][1000 genomes]
rs56073856	0.90[ASN][1000 genomes]
rs56231606	0.90[ASN][1000 genomes]
rs58680169	0.85[ASN][1000 genomes]
rs6721769	0.90[ASN][1000 genomes]
rs6721928	0.90[ASN][1000 genomes]
rs6725139	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs6731596	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6745066	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72797513	0.89[ASN][1000 genomes]
rs72797515	0.89[ASN][1000 genomes]
rs72797516	0.89[ASN][1000 genomes]
rs72797517	0.89[ASN][1000 genomes]
rs72797519	0.89[ASN][1000 genomes]
rs72797522	0.89[ASN][1000 genomes]
rs72797530	0.90[ASN][1000 genomes]
rs72797534	0.90[ASN][1000 genomes]
rs72797535	0.90[ASN][1000 genomes]
rs72797536	0.90[ASN][1000 genomes]
rs72797537	0.90[ASN][1000 genomes]
rs7585618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7575639	ACYP2	cis	parietal	SCAN
rs7575639	EFEMP1	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55361400-55370200	Enhancers	Fetal Intestine Large	intestine
2	chr2:55361800-55373000	Weak transcription	HSMMtube	muscle
3	chr2:55361800-55378600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:55363800-55370400	Enhancers	Duodenum Mucosa	Duodenum
5	chr2:55365200-55381000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:55365600-55378600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:55366200-55378600	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:55366800-55373400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:55367200-55370000	Enhancers	Brain Substantia Nigra	brain
10	chr2:55367200-55378800	Weak transcription	Placenta	Placenta
11	chr2:55367600-55370000	Enhancers	Stomach Mucosa	stomach
12	chr2:55367800-55375000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:55368400-55370000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:55368400-55370000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr2:55368600-55370000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr2:55368600-55370000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:55368600-55370000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr2:55368800-55370200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr2:55368800-55370200	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:55369000-55370600	Enhancers	K562	blood
21	chr2:55369600-55370200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:55369600-55374600	Weak transcription	Hela-S3	cervix
23	chr2:55369800-55370000	Enhancers	HepG2	liver
24	chr2:55369800-55374800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:55369800-55378200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:55369800-55378600	Weak transcription	Fetal Stomach	stomach

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