Variant report

Variant	rs3765105
Chromosome Location	chr11:72414189-72414190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:72414140-72414290	HBMEC	blood vessel:	n/a	n/a
2	ZBTB7A	chr11:72413905-72414861	ECC-1	luminal epithelium:	n/a	n/a
3	TCF12	chr11:72414166-72414826	ECC-1	luminal epithelium:	n/a	n/a
4	ZBTB7A	chr11:72413956-72414966	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr11:72413368-72416327	K562	blood:	n/a	n/a
6	POLR2A	chr11:72413974-72414400	GM12878	blood:	n/a	n/a
7	CTCF	chr11:72414160-72414310	NHDF-neo	bronchial:	n/a	n/a
8	POLR2A	chr11:72414093-72414436	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72407255..72411434-chr11:72413782..72416688,5	K562	blood:
2	chr11:72407553..72409836-chr11:72411461..72415120,3	MCF-7	breast:

Variant related genes	Relation type
ARAP1	TF binding region
ENSG00000186635	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10898865	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11235566	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.95[ASN][1000 genomes]
rs11235572	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11235573	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11235574	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11602233	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11605042	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12274620	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12801699	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2306608	1.00[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2306612	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35250343	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3816777	1.00[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7105818	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7110501	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7112897	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs730783	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs900616	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
3	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv555408	chr11:72405223-72441431	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv555409	chr11:72405450-72423385	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv468636	chr11:72405868-72431679	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv555410	chr11:72405868-72431679	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3765105	FAM168A	cis	cerebellum	SCAN
rs3765105	MYEOV	cis	parietal	SCAN
rs3765105	STARD10	cis	Adipose Subcutaneous	GTEx
rs3765105	C11orf59	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72393800-72423200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:72394000-72414600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:72394000-72426800	Strong transcription	Thymus	Thymus
4	chr11:72394200-72423600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr11:72394200-72425800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:72394200-72429000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:72394400-72423200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:72394400-72423800	Strong transcription	Duodenum Mucosa	Duodenum
9	chr11:72394400-72424400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:72394600-72428800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:72394600-72429400	Strong transcription	Primary T cells from cord blood	blood
12	chr11:72394600-72430200	Strong transcription	Dnd41	blood
13	chr11:72395000-72423800	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr11:72395000-72429800	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:72395200-72425600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:72395200-72429000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:72395400-72414200	Strong transcription	Brain Angular Gyrus	brain
18	chr11:72395400-72414200	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr11:72395400-72414400	Strong transcription	Brain Germinal Matrix	brain
20	chr11:72396000-72425600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:72396000-72426000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr11:72396200-72423200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:72396400-72425400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:72397000-72423400	Strong transcription	Primary B cells from cord blood	blood
25	chr11:72397200-72414200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:72397800-72425200	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:72397800-72426000	Strong transcription	Fetal Thymus	thymus
28	chr11:72398000-72425200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr11:72398600-72423800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr11:72398600-72424400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:72398600-72426000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:72398800-72423600	Weak transcription	Right Atrium	heart
33	chr11:72398800-72425200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:72401000-72423600	Strong transcription	Liver	Liver
35	chr11:72404200-72423600	Weak transcription	Fetal Brain Male	brain
36	chr11:72405000-72429600	Weak transcription	Psoas Muscle	Psoas
37	chr11:72406400-72426200	Strong transcription	Pancreas	Pancrea
38	chr11:72407200-72414200	Weak transcription	NH-A	brain
39	chr11:72408800-72414600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:72408800-72415200	Strong transcription	Spleen	Spleen
41	chr11:72408800-72415800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:72408800-72417400	Weak transcription	K562	blood
43	chr11:72408800-72418800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:72409000-72432600	Strong transcription	HepG2	liver
45	chr11:72409800-72415200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:72411000-72415800	Enhancers	Fetal Heart	heart
47	chr11:72411200-72416400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr11:72411400-72415400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:72411600-72414600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:72411600-72415800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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