Variant report

Variant	rs496620
Chromosome Location	chr11:34968327-34968328
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34936782..34939692-chr11:34966895..34969731,2	K562	blood:
2	chr11:34938300..34939878-chr11:34967011..34969816,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149089	Chromatin interaction
ENSG00000110435	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10836323	0.82[ASN][1000 genomes]
rs1326940	0.86[CHD][hapmap]
rs1326941	0.86[CHD][hapmap]
rs1430855	0.86[CHD][hapmap]
rs1571135	0.86[CHD][hapmap]
rs1977420	0.86[CHD][hapmap]
rs1998603	0.86[CHD][hapmap]
rs1998912	0.86[CHD][hapmap]
rs2281809	0.82[ASN][1000 genomes]
rs2288667	0.86[CHD][hapmap]
rs2732557	0.82[ASN][1000 genomes]
rs2732558	0.82[ASN][1000 genomes]
rs2761819	0.81[ASN][1000 genomes]
rs2761821	0.82[ASN][1000 genomes]
rs2761822	0.82[ASN][1000 genomes]
rs2762958	0.82[ASN][1000 genomes]
rs2762960	0.82[ASN][1000 genomes]
rs2915181	0.82[ASN][1000 genomes]
rs2915193	0.86[CHD][hapmap]
rs2915205	0.86[CHD][hapmap]
rs2915220	0.86[CHD][hapmap]
rs2915222	0.86[CHD][hapmap]
rs2915224	0.86[CHD][hapmap]
rs2915227	0.82[ASN][1000 genomes]
rs2956106	0.86[CHD][hapmap]
rs2956114	0.86[CHD][hapmap]
rs2985389	0.86[CHD][hapmap]
rs2985390	0.82[CHD][hapmap]
rs2985401	0.82[ASN][1000 genomes]
rs2985403	0.89[CHD][hapmap]
rs2986410	0.86[CHD][hapmap]
rs2986425	0.86[CHD][hapmap]
rs2986427	0.86[CHD][hapmap]
rs2986429	0.83[CHD][hapmap]
rs589626	0.82[ASN][1000 genomes]
rs614668	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs746124	0.82[ASN][1000 genomes]
rs9326	0.82[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv2754010	chr11:34940724-35001024	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs496620	APIP	cis	Skin Sun Exposed Lower leg	GTEx
rs496620	APIP	cis	lymphoblastoid	seeQTL
rs496620	APIP	cis	Lymphoblastoid	GTEx
rs496620	APIP	cis	multi-tissue	Pritchard

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34938800-34990400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:34939200-35000000	Weak transcription	Thymus	Thymus
3	chr11:34940200-34970400	Weak transcription	Left Ventricle	heart
4	chr11:34940200-34984800	Weak transcription	Fetal Stomach	stomach
5	chr11:34948000-34990600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:34948000-35000400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:34948000-35006800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:34948200-34997000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:34948600-34990400	Weak transcription	HUVEC	blood vessel
10	chr11:34949200-34990400	Weak transcription	NHEK	skin
11	chr11:34950400-34991600	Weak transcription	NHLF	lung
12	chr11:34951000-34970400	Weak transcription	Aorta	Aorta
13	chr11:34951000-34970400	Weak transcription	Ovary	ovary
14	chr11:34951000-34981400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:34951400-34986600	Weak transcription	Fetal Thymus	thymus
16	chr11:34951600-34992000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:34951800-34970400	Weak transcription	Pancreas	Pancrea
18	chr11:34951800-34985000	Weak transcription	Lung	lung
19	chr11:34951800-34988200	Weak transcription	Fetal Intestine Small	intestine
20	chr11:34951800-35000200	Weak transcription	Psoas Muscle	Psoas
21	chr11:34952200-35010800	Weak transcription	Small Intestine	intestine
22	chr11:34952400-34990200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:34954400-34969400	Weak transcription	Fetal Lung	lung
24	chr11:34954600-34978800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:34954600-34986600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:34954600-34987800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:34954600-34991200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:34954800-34988200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:34955000-34969600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:34955000-34988200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:34955200-34969600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:34955400-34970400	Weak transcription	Liver	Liver
33	chr11:34955400-34985200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:34955400-34989000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr11:34955800-34979200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:34955800-34981200	Weak transcription	Brain Anterior Caudate	brain
37	chr11:34955800-34985000	Weak transcription	Placenta	Placenta
38	chr11:34956000-34969600	Weak transcription	Brain Angular Gyrus	brain
39	chr11:34956200-34980800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr11:34956400-34990600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr11:34956800-34969000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:34958200-34978800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr11:34958200-34978800	Weak transcription	Hela-S3	cervix
44	chr11:34958200-34991600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:34958200-34995600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:34958800-34969600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr11:34959000-34979000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:34959000-35019600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:34959400-34969600	Weak transcription	Dnd41	blood
50	chr11:34960400-34986600	Weak transcription	K562	blood

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