Variant report

Variant	rs11885932
Chromosome Location	chr2:10973201-10973202
allele	A/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	CTCF	chr2:10971969-10973239	SK-N-SH	brain:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
2	CTCF	chr2:10973120-10973270	HUVEC	blood vessel:	n/a	n/a
3	SMC3	chr2:10972126-10973329	SK-N-SH	brain:	n/a	chr2:10972630-10972644 chr2:10972531-10972545
4	CTCF	chr2:10973140-10973290	HUVEC	blood vessel:	n/a	n/a
5	RAD21	chr2:10972158-10973230	SK-N-SH	brain:	n/a	chr2:10972536-10972545 chr2:10972629-10972648 chr2:10973105-10973118
6	CTCF	chr2:10971946-10973234	A549	lung:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644

No.	Distal block	Cell Line	Cell type
1	chr2:10952771..10956477-chr2:10972417..10975728,4	MCF-7	breast:
2	chr2:10971180..10977465-chr2:11267266..11272931,15	MCF-7	breast:
3	chr2:10972705..10973216-chr2:11040003..11040608,2	MCF-7	breast:
4	chr2:10973069..10975850-chr2:10977411..10980248,3	MCF-7	breast:
5	chr2:10973065..10975997-chr2:10978928..10980629,2	K562	blood:
6	chr2:10972846..10976528-chr2:10977131..10980647,4	MCF-7	breast:
7	chr2:10972636..10975307-chr2:11052060..11056394,5	MCF-7	breast:

Variant related genes	Relation type
PDIA6	TF binding region
ENSG00000162975	Chromatin interaction
ENSG00000143870	Chromatin interaction
ENSG00000238962	Chromatin interaction
ENSG00000145063	Chromatin interaction

rs_ID	r²[population]
rs10182400	0.87[EUR][1000 genomes]
rs10192112	0.86[EUR][1000 genomes]
rs10197595	0.86[EUR][1000 genomes]
rs10200007	0.86[EUR][1000 genomes]
rs10520049	0.82[EUR][1000 genomes]
rs11489	0.81[EUR][1000 genomes]
rs12617247	0.89[EUR][1000 genomes]
rs12617440	0.85[EUR][1000 genomes]
rs13404780	0.87[EUR][1000 genomes]
rs1387568	0.89[EUR][1000 genomes]
rs17364770	0.81[EUR][1000 genomes]
rs17364812	0.85[EUR][1000 genomes]
rs17365015	0.82[EUR][1000 genomes]
rs17365299	0.87[EUR][1000 genomes]
rs17455729	0.86[EUR][1000 genomes]
rs17455876	0.82[EUR][1000 genomes]
rs2357816	0.90[EUR][1000 genomes]
rs3856467	0.83[EUR][1000 genomes]
rs6714903	0.81[EUR][1000 genomes]
rs6718547	0.81[EUR][1000 genomes]
rs6722515	0.82[EUR][1000 genomes]
rs6733037	0.87[EUR][1000 genomes]
rs73174526	0.91[EUR][1000 genomes]
rs7561135	0.87[EUR][1000 genomes]
rs7570179	0.87[EUR][1000 genomes]

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10970200-10973600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr2:10970800-10975200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:10971600-10974600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:10971600-10975600	Enhancers	HUVEC	blood vessel
5	chr2:10972200-10974000	Bivalent Enhancer	Fetal Thymus	thymus
6	chr2:10972200-10975600	Enhancers	Fetal Brain Female	brain
7	chr2:10972200-10978800	Enhancers	Fetal Brain Male	brain
8	chr2:10972400-10973400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr2:10972400-10974400	Bivalent Enhancer	Fetal Stomach	stomach
10	chr2:10972400-10974800	Enhancers	Colon Smooth Muscle	Colon
11	chr2:10972600-10974000	Enhancers	Brain Anterior Caudate	brain
12	chr2:10972600-10974000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:10972600-10974400	Enhancers	Brain Cingulate Gyrus	brain
14	chr2:10972600-10974800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:10972600-10975200	Weak transcription	A549	lung
16	chr2:10972800-10973400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:10972800-10973600	Weak transcription	Brain Substantia Nigra	brain
18	chr2:10972800-10974800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:10972800-10975200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:10972800-10975400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:10972800-10975400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:10973000-10973400	Enhancers	Brain Germinal Matrix	brain
23	chr2:10973000-10973400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
24	chr2:10973000-10975000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:10973000-10975200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:10973000-10975400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:10973000-10975400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:10973000-10975400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:10973000-10975400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:10973000-10980200	Weak transcription	Right Atrium	heart
31	chr2:10973200-10973400	Bivalent Enhancer	Brain Hippocampus Middle	brain
32	chr2:10973200-10974000	Weak transcription	Brain Angular Gyrus	brain
33	chr2:10973200-10974400	Weak transcription	Spleen	Spleen
34	chr2:10973200-10975200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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