Variant report

Variant	rs3740694
Chromosome Location	chr11:47182926-47182927
allele	C/T
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:21)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46941414..46942001-chr11:47182406..47183382,2	MCF-7	breast:
2	chr11:47176955..47179833-chr11:47182834..47185275,2	K562	blood:
3	chr11:46908785..46911587-chr11:47181923..47184025,2	K562	blood:
4	chr11:46835868..46836380-chr11:47182883..47183547,2	MCF-7	breast:
5	chr11:47182168..47183177-chr11:47376486..47377401,4	MCF-7	breast:
6	chr11:46918253..46919096-chr11:47182705..47183252,2	MCF-7	breast:
7	chr11:46800078..46802503-chr11:47181465..47183295,2	MCF-7	breast:
8	chr11:46910632..46911846-chr11:47181918..47183347,13	MCF-7	breast:
9	chr11:46910656..46912595-chr11:47182262..47183756,21	K562	blood:
10	chr11:47181158..47183252-chr11:47291635..47293495,2	K562	blood:
11	chr11:46970587..46973185-chr11:47182326..47184987,2	MCF-7	breast:
12	chr11:47182876..47183464-chr11:47429270..47430195,2	K562	blood:
13	chr11:46910731..46911924-chr11:47182475..47183776,13	MCF-7	breast:
14	chr11:47176197..47179862-chr11:47181341..47184518,4	MCF-7	breast:
15	chr11:47182519..47183758-chr11:47376283..47377406,7	MCF-7	breast:
16	chr11:46912513..46914705-chr11:47182885..47185106,2	K562	blood:
17	chr11:47181895..47183396-chr11:47375701..47377914,2	K562	blood:
18	chr11:46697171..46698171-chr11:47182788..47183296,2	K562	blood:
19	chr11:47182100..47184765-chr17:41391871..41393459,2	MCF-7	breast:
20	chr11:46941205..46942113-chr11:47182281..47183725,5	K562	blood:
21	chr11:47182335..47183369-chr11:47376517..47377453,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C11orf49-2	chr11:47181656-47183796	NONHSAT021212

No data

Variant related genes	Relation type
ENSG00000165915	Chromatin interaction
ENSG00000149179	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000134569	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11039106	1.00[ASN][1000 genomes]
rs11039114	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.85[MKK][hapmap];1.00[ASN][1000 genomes]
rs2867972	0.96[ASN][1000 genomes]
rs3740691	0.95[GIH][hapmap]
rs7130989	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs752849	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7925137	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7940473	1.00[ASN][1000 genomes]
rs7948786	1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs3740694	C11orf49	cis	parietal	SCAN
rs3740694	C11orf49	cis	cerebellum	SCAN
rs3740694	ARFGAP2	cis	cerebellum	SCAN
rs3740694	FNBP4	Cis_1M	lymphoblastoid	RTeQTL
rs3740694	C11orf49	cis	brain	BrainEAC

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47165000-47184800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr11:47165000-47185000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:47165200-47185600	Weak transcription	Aorta	Aorta
4	chr11:47165400-47188600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:47171000-47183400	Weak transcription	Gastric	stomach
6	chr11:47171400-47186000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:47171600-47186400	Weak transcription	Psoas Muscle	Psoas
8	chr11:47174800-47183000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:47174800-47185600	Weak transcription	Left Ventricle	heart
10	chr11:47175200-47183000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:47175200-47183400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:47175200-47183400	Weak transcription	HepG2	liver
13	chr11:47175200-47185600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:47175200-47185600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:47175200-47185800	Weak transcription	Small Intestine	intestine
16	chr11:47175200-47186400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:47175200-47188600	Weak transcription	Fetal Heart	heart
18	chr11:47175400-47183400	Weak transcription	Colonic Mucosa	Colon
19	chr11:47175400-47183600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:47175400-47183600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:47175400-47184000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:47175400-47185400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:47175400-47185400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:47175400-47185600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:47175400-47185600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:47175400-47185600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:47175400-47186000	Weak transcription	HUVEC	blood vessel
28	chr11:47175400-47186600	Weak transcription	Fetal Kidney	kidney
29	chr11:47175400-47197600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr11:47176000-47196600	Strong transcription	Fetal Intestine Small	intestine
31	chr11:47176200-47183600	Weak transcription	Osteobl	bone
32	chr11:47176200-47185600	Weak transcription	HSMM	muscle
33	chr11:47176200-47187800	Weak transcription	NHDF-Ad	bronchial
34	chr11:47176600-47183600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:47176600-47188600	Weak transcription	Fetal Brain Male	brain
36	chr11:47176800-47193000	Strong transcription	Fetal Brain Female	brain
37	chr11:47176800-47196600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:47177000-47186200	Weak transcription	GM12878-XiMat	blood
39	chr11:47177200-47183600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:47177200-47184600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:47177400-47183400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:47177400-47183600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr11:47177400-47184000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr11:47177400-47186200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:47177400-47187000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:47177600-47184800	Weak transcription	Primary B cells from cord blood	blood
47	chr11:47177800-47185600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:47178000-47186400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:47178000-47186400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr11:47178000-47197000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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