Variant report

Variant	rs670736
Chromosome Location	chr11:86383679-86383680
allele	C/T
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	MAX	chr11:86382641-86383849	H1-hESC	embryonic stem cell:	n/a	chr11:86383579-86383592 chr11:86383580-86383591 chr11:86383582-86383591 chr11:86383137-86383147 chr11:86383581-86383590 chr11:86383557-86383566 chr11:86383582-86383589 chr11:86383580-86383590
2	E2F6	chr11:86382737-86383738	H1-hESC	embryonic stem cell:	n/a	chr11:86383134-86383144 chr11:86383178-86383188
3	E2F6	chr11:86382527-86384015	A549	lung:	n/a	chr11:86382734-86382743 chr11:86383134-86383144 chr11:86383178-86383188
4	MAX	chr11:86382282-86384129	A549	lung:	n/a	chr11:86383579-86383592 chr11:86383580-86383591 chr11:86383582-86383591 chr11:86383137-86383147 chr11:86383581-86383590 chr11:86383557-86383566 chr11:86383582-86383589 chr11:86383580-86383590
5	YY1	chr11:86382841-86383734	A549	lung:	n/a	chr11:86383258-86383269
6	MAX	chr11:86382575-86383879	H1-hESC	embryonic stem cell:	n/a	chr11:86383579-86383592 chr11:86383580-86383591 chr11:86383582-86383591 chr11:86383137-86383147 chr11:86383581-86383590 chr11:86383557-86383566 chr11:86383582-86383589 chr11:86383580-86383590
7	TCF7L2	chr11:86382352-86383717	PANC-1	pancreas:	n/a	chr11:86383522-86383532
8	REST	chr11:86382168-86383743	A549	lung:	n/a	chr11:86383368-86383386
9	POLR2A	chr11:86382056-86384154	PANC-1	pancreas:	n/a	n/a
10	MAX	chr11:86382224-86384129	A549	lung:	n/a	chr11:86383579-86383592 chr11:86383580-86383591 chr11:86383582-86383591 chr11:86383137-86383147 chr11:86383581-86383590 chr11:86383557-86383566 chr11:86383582-86383589 chr11:86383580-86383590
11	POLR2A	chr11:86382347-86383823	HUVEC	blood vessel:	n/a	n/a
12	E2F6	chr11:86382632-86383937	H1-hESC	embryonic stem cell:	n/a	chr11:86382734-86382743 chr11:86383134-86383144 chr11:86383178-86383188
13	POLR2A	chr11:86383041-86383756	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr11:86382294-86383967	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr11:86382590-86383749	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F6	chr11:86382587-86383730	A549	lung:	n/a	chr11:86382734-86382743 chr11:86383134-86383144 chr11:86383178-86383188
17	EP300	chr11:86382540-86383740	A549	lung:	n/a	chr11:86383172-86383188 chr11:86383410-86383426
18	REST	chr11:86383352-86383748	PANC-1	pancreas:	n/a	chr11:86383368-86383386
19	POLR2A	chr11:86383639-86383727	Gliobla	brain:	n/a	n/a
20	MAX	chr11:86382480-86383736	SK-N-SH	brain:	n/a	chr11:86383579-86383592 chr11:86383580-86383591 chr11:86383582-86383591 chr11:86383137-86383147 chr11:86383581-86383590 chr11:86383557-86383566 chr11:86383582-86383589 chr11:86383580-86383590
21	SP1	chr11:86382947-86383833	A549	lung:	n/a	chr11:86383260-86383274
22	CTBP2	chr11:86382651-86383759	H1-hESC	embryonic stem cell:	n/a	n/a
23	GATA3	chr11:86382460-86384021	A549	lung:	n/a	chr11:86382648-86382656 chr11:86383333-86383341
24	MYC	chr11:86382330-86383959	A549	lung:	n/a	chr11:86383579-86383592 chr11:86383580-86383591 chr11:86383582-86383591 chr11:86383137-86383147 chr11:86383581-86383590 chr11:86383557-86383566 chr11:86383582-86383589 chr11:86383580-86383590
25	POLR2A	chr11:86383106-86383698	HL-60	blood:	n/a	n/a
26	SIN3AK20	chr11:86382619-86383681	PANC-1	pancreas:	n/a	n/a
27	MAX	chr11:86382502-86383834	A549	lung:	n/a	chr11:86383579-86383592 chr11:86383580-86383591 chr11:86383582-86383591 chr11:86383137-86383147 chr11:86383581-86383590 chr11:86383557-86383566 chr11:86383582-86383589 chr11:86383580-86383590
28	POLR2A	chr11:86382587-86383786	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr11:86381845-86384306	PANC-1	pancreas:	n/a	n/a
30	BCL3	chr11:86382853-86383904	A549	lung:	n/a	n/a
31	MAX	chr11:86382576-86383754	SK-N-SH	brain:	n/a	chr11:86383579-86383592 chr11:86383580-86383591 chr11:86383582-86383591 chr11:86383137-86383147 chr11:86383581-86383590 chr11:86383557-86383566 chr11:86383582-86383589 chr11:86383580-86383590
32	MXI1	chr11:86382352-86383890	IMR90	lung:	n/a	chr11:86383582-86383591
33	TCF12	chr11:86382328-86383846	A549	lung:	n/a	n/a
34	MYC	chr11:86383224-86383757	H1-hESC	embryonic stem cell:	n/a	chr11:86383579-86383592 chr11:86383580-86383591 chr11:86383582-86383591 chr11:86383581-86383590 chr11:86383557-86383566 chr11:86383582-86383589 chr11:86383580-86383590

No.	Distal block	Cell Line	Cell type
1	chr11:86378621..86386201-chr11:86413884..86420246,14	MCF-7	breast:
2	chr11:86379027..86389838-chr11:86504553..86514376,29	MCF-7	breast:
3	chr11:86381425..86386014-chr11:86508895..86515059,6	MCF-7	breast:

Variant related genes	Relation type
ME3	TF binding region
ENSG00000150687	Chromatin interaction
ENSG00000254731	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10898517	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10898518	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11501849	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11530863	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11530882	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11560984	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12098937	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1938921	0.85[AMR][1000 genomes]
rs2155033	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4943950	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4943952	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4944620	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944622	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs496167	0.85[AMR][1000 genomes]
rs507123	0.83[CHB][hapmap]
rs507211	0.81[CHB][hapmap]
rs594361	0.83[CHB][hapmap];0.80[CHD][hapmap]
rs61703751	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs626049	0.83[CHB][hapmap]
rs647782	0.89[AMR][1000 genomes]
rs656307	0.85[AMR][1000 genomes]
rs663543	0.86[AMR][1000 genomes]
rs682915	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs7120052	0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7123010	0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7935437	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7938344	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv555704	chr11:86344677-86386784	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs670736	ME3	cis	cerebellum	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86380600-86384400	Active TSS	Brain Angular Gyrus	brain
2	chr11:86380800-86384000	Active TSS	Fetal Brain Female	brain
3	chr11:86381000-86383800	Active TSS	Right Atrium	heart
4	chr11:86381000-86384400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:86381200-86384400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:86381400-86383800	Active TSS	Fetal Kidney	kidney
7	chr11:86381400-86384600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr11:86381600-86383800	Active TSS	Ovary	ovary
9	chr11:86382000-86383800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr11:86382000-86383800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:86382000-86383800	Active TSS	Aorta	Aorta
12	chr11:86382000-86384200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr11:86382200-86383800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr11:86382200-86383800	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr11:86382200-86383800	Active TSS	Psoas Muscle	Psoas
16	chr11:86382200-86383800	Active TSS	Right Ventricle	heart
17	chr11:86382400-86383800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:86382400-86383800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:86382400-86383800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:86382400-86383800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr11:86382400-86383800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:86382400-86383800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:86382400-86383800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:86382400-86383800	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr11:86382400-86383800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr11:86382400-86383800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr11:86382400-86383800	Active TSS	Gastric	stomach
28	chr11:86382400-86383800	Active TSS	Lung	lung
29	chr11:86382400-86383800	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr11:86382400-86383800	Active TSS	Small Intestine	intestine
31	chr11:86382400-86383800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
32	chr11:86382600-86383800	Active TSS	H9 Cell Line	embryonic stem cell
33	chr11:86382600-86383800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:86382600-86383800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr11:86382600-86383800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:86382600-86383800	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr11:86382600-86383800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:86382600-86383800	Active TSS	Fetal Intestine Large	intestine
39	chr11:86382600-86383800	Active TSS	Fetal Lung	lung
40	chr11:86382600-86384000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr11:86382600-86384000	Active TSS	Primary T cells from cord blood	blood
42	chr11:86382600-86384800	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr11:86382800-86383800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr11:86382800-86383800	Active TSS	Brain Substantia Nigra	brain
45	chr11:86382800-86383800	Active TSS	Colon Smooth Muscle	Colon
46	chr11:86382800-86383800	Weak transcription	Fetal Heart	heart
47	chr11:86382800-86384000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr11:86382800-86384200	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr11:86383000-86383800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:86383000-86383800	Bivalent/Poised TSS	Fetal Stomach	stomach

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