Variant report

Variant	rs7104093
Chromosome Location	chr11:10339134-10339135
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:10339055-10339799	GM12892	blood:	n/a	n/a
2	MEF2A	chr11:10338689-10339269	GM12878	blood:	n/a	n/a
3	MAZ	chr11:10338720-10339139	GM12878	blood:	n/a	n/a
4	TBL1XR1	chr11:10338738-10339259	GM12878	blood:	n/a	n/a
5	FOXM1	chr11:10338540-10339926	GM12878	blood:	n/a	n/a
6	RELA	chr11:10338876-10339863	GM19193	blood:	n/a	n/a
7	POLR2A	chr11:10338859-10339865	GM12892	blood:	n/a	n/a
8	FOXM1	chr11:10338608-10339238	GM12878	blood:	n/a	n/a
9	RUNX3	chr11:10338606-10339881	GM12878	blood:	n/a	n/a
10	SP1	chr11:10338723-10339724	GM12878	blood:	n/a	chr11:10339162-10339171 chr11:10339161-10339170
11	YY1	chr11:10339077-10339578	GM12878	blood:	n/a	n/a
12	BATF	chr11:10338620-10339881	GM12878	blood:	n/a	n/a
13	NFIC	chr11:10338519-10340037	GM12878	blood:	n/a	n/a
14	PML	chr11:10338651-10339665	GM12878	blood:	n/a	n/a
15	EBF1	chr11:10338830-10339825	GM12878	blood:	n/a	n/a
16	ATF2	chr11:10338618-10339908	GM12878	blood:	n/a	n/a
17	RUNX3	chr11:10338626-10340100	GM12878	blood:	n/a	n/a
18	PAX5	chr11:10339106-10339641	GM12892	blood:	n/a	n/a
19	MTA3	chr11:10338587-10340312	GM12878	blood:	n/a	n/a
20	EP300	chr11:10338773-10339827	GM12878	blood:	n/a	n/a
21	ELK1	chr11:10339112-10339476	GM12878	blood:	n/a	n/a
22	STAT5A	chr11:10338669-10339796	GM12878	blood:	n/a	n/a
23	BHLHE40	chr11:10338831-10339696	GM12878	blood:	n/a	n/a
24	PAX5	chr11:10339066-10339741	GM12878	blood:	n/a	n/a
25	YY1	chr11:10339119-10339683	GM12892	blood:	n/a	n/a
26	BCLAF1	chr11:10338792-10339669	GM12878	blood:	n/a	chr11:10339654-10339663 chr11:10339077-10339086
27	NFIC	chr11:10338603-10339739	GM12878	blood:	n/a	n/a
28	RCOR1	chr11:10338794-10339762	GM12878	blood:	n/a	n/a
29	IKZF1	chr11:10338680-10339670	GM12878	blood:	n/a	chr11:10339594-10339602
30	BCLAF1	chr11:10338681-10339789	GM12878	blood:	n/a	chr11:10339654-10339663 chr11:10339077-10339086
31	POLR2A	chr11:10339036-10339693	GM12892	blood:	n/a	n/a
32	RELA	chr11:10338725-10339926	GM12891	blood:	n/a	n/a
33	STAT5A	chr11:10338821-10339749	GM12878	blood:	n/a	n/a
34	MEF2C	chr11:10338742-10339242	GM12878	blood:	n/a	n/a
35	MEF2A	chr11:10338550-10339240	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:10339086-10339136	PFSK-1	brain:	n/a
2	chr11:10339086-10339136	U87	brain:	n/a
3	chr11:10339086-10339136	AoSMC	blood vessel:	n/a
4	chr11:10339086-10339136	NH-A	brain:	n/a
5	chr11:10339086-10339136	GM12878	blood:	n/a
6	chr11:10339086-10339136	Jurkat	blood:	n/a
7	chr11:10339086-10339136	HL-60	blood:	n/a
8	chr11:10339086-10339136	HCT-116	colon:	n/a
9	chr11:10339086-10339136	IMR90	lung:	fetal
10	chr11:10339086-10339136	AG09309	skin:	n/a
11	chr11:10339086-10339136	HRPEpiC	eye:	n/a
12	chr11:10339086-10339136	MCF10A-Er-Src	breast:	n/a
13	chr11:10339086-10339136	BJ	skin:	n/a
14	chr11:10339086-10339136	HRCEpiC	kidney:	n/a
15	chr11:10339086-10339136	LNCaP	prostate:	n/a
16	chr11:10339086-10339136	HRE	kidney:	n/a
17	chr11:10339086-10339136	PANC-1	pancreas:	n/a
18	chr11:10339086-10339136	ProgFib	skin:	n/a
19	chr11:10339086-10339136	A549	lung:	n/a
20	chr11:10339086-10339136	HCM	heart:	n/a
21	chr11:10339086-10339136	T-47D	breast:	n/a
22	chr11:10339086-10339136	NHBE	bronchial:	n/a
23	chr11:10339086-10339136	NHDF-neo	bronchial:	n/a
24	chr11:10339086-10339136	NT2-D1	testis:	n/a
25	chr11:10339086-10339136	ECC-1	luminal epithelium:	n/a
26	chr11:10339086-10339136	AG10803	skin:	n/a
27	chr11:10339086-10339136	ovcar-3	ovarian:	n/a
28	chr11:10339086-10339136	AG04450	lung:	fetal
29	chr11:10339086-10339136	GM12892	blood:	n/a
30	chr11:10339086-10339136	GM06990	blood:	n/a
31	chr11:10339086-10339136	AG09319	gingival:	n/a
32	chr11:10339086-10339136	AG04449	skin:	fetal
33	chr11:10339086-10339136	Caco-2	colon:	n/a
34	chr11:10339086-10339136	SK-N-SH_RA	brain:	n/a
35	chr11:10339086-10339136	Hela-S3	cervix:	n/a
36	chr11:10339086-10339136	HPAEpiC	pulmonary alveolar:	n/a
37	chr11:10339086-10339136	CMK	blood:	n/a
38	chr11:10339086-10339136	NB4	blood:	n/a
39	chr11:10339086-10339136	HUVEC	blood vessel:	n/a
40	chr11:10339086-10339136	SAEC	small airway:	n/a
41	chr11:10339086-10339136	HepG2	liver:	n/a
42	chr11:10339086-10339136	GM12891	blood:	n/a
43	chr11:10339086-10339136	HNPCEpiC	eye:	n/a
44	chr11:10339086-10339136	HCF	heart:	n/a
45	chr11:10339086-10339136	PrEC	prostate:	n/a
46	chr11:10339086-10339136	RPTEC	kidney:	n/a
47	chr11:10339086-10339136	MCF-7	breast:	n/a
48	chr11:10339086-10339136	SK-N-SH	brain:	n/a
49	chr11:10339086-10339136	H1-hESC	embryonic stem cell:	embryo
50	chr11:10339086-10339136	HEEpiC	esophagus:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10324179..10326085-chr11:10337865..10340352,2	MCF-7	breast:

No data

Variant related genes	Relation type
AMPD3	TF binding region
AMPD3	CpG island
ENSG00000254554	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10770103	1.00[ASN][1000 genomes]
rs10840377	1.00[CEU][hapmap]
rs11042641	1.00[CEU][hapmap]
rs11042721	0.82[CEU][hapmap]
rs11042731	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11599958	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600251	1.00[CEU][hapmap]
rs11603561	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11606561	1.00[CEU][hapmap]
rs12360783	1.00[CEU][hapmap]
rs12362060	0.95[CEU][hapmap]
rs12362938	1.00[ASN][1000 genomes]
rs12416695	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12416875	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12418514	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420640	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1442737	1.00[CEU][hapmap]
rs17359113	1.00[CEU][hapmap]
rs1822292	0.84[ASW][hapmap];0.95[CEU][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs2044782	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167169	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2197171	1.00[CEU][hapmap]
rs2403292	1.00[CEU][hapmap]
rs4281477	1.00[CEU][hapmap]
rs4345958	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4399321	0.81[GIH][hapmap]
rs4450168	1.00[ASN][1000 genomes]
rs4910095	1.00[CEU][hapmap]
rs4910098	1.00[ASN][1000 genomes]
rs55788918	1.00[ASN][1000 genomes]
rs55923001	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878636	1.00[ASN][1000 genomes]
rs61889838	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891765	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123453	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7931804	1.00[ASN][1000 genomes]
rs7935934	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap]
rs7938491	1.00[CEU][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap]
rs7950447	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7104093	OR10A5	cis	cerebellum	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10330800-10339400	Weak transcription	Psoas Muscle	Psoas
2	chr11:10330800-10344400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:10331000-10340000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:10331000-10340000	Weak transcription	Spleen	Spleen
5	chr11:10331400-10343800	Weak transcription	NHLF	lung
6	chr11:10331800-10344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:10332400-10340000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:10332400-10340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:10336400-10339200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:10336400-10343400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:10336400-10344000	Weak transcription	Osteobl	bone
12	chr11:10336600-10340000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:10336600-10343200	Weak transcription	Stomach Mucosa	stomach
14	chr11:10337000-10339800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:10337800-10339800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:10337800-10342200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:10337800-10343400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr11:10338200-10339200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:10338400-10339600	Enhancers	Brain Hippocampus Middle	brain
20	chr11:10338400-10339800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr11:10338400-10340000	Flanking Active TSS	GM12878-XiMat	blood
22	chr11:10338400-10340200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:10338400-10340200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr11:10338400-10340400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr11:10338400-10340400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:10338400-10340400	Enhancers	Fetal Intestine Small	intestine
27	chr11:10338400-10341800	Enhancers	Adipose Nuclei	Adipose
28	chr11:10338400-10342000	Enhancers	Fetal Thymus	thymus
29	chr11:10338400-10346800	Enhancers	NHDF-Ad	bronchial
30	chr11:10338600-10339200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:10338600-10339200	Enhancers	Brain Cingulate Gyrus	brain
32	chr11:10338600-10339200	Enhancers	Colon Smooth Muscle	Colon
33	chr11:10338600-10339400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:10338600-10339400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:10338600-10339400	Enhancers	Fetal Kidney	kidney
36	chr11:10338600-10339400	Enhancers	A549	lung
37	chr11:10338600-10339600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:10338600-10339600	Enhancers	Brain Anterior Caudate	brain
39	chr11:10338600-10339600	Enhancers	Brain Substantia Nigra	brain
40	chr11:10338600-10339600	Enhancers	Placenta	Placenta
41	chr11:10338600-10339800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:10338600-10339800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr11:10338600-10340200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr11:10338600-10340200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr11:10338600-10340200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:10338600-10340200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr11:10338600-10340200	Enhancers	Right Atrium	heart
48	chr11:10338600-10340400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr11:10338600-10340400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:10338600-10340400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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