Variant report

Variant	rs11112686
Chromosome Location	chr12:106099683-106099684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:181)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:181 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:106099560-106099710	HMEC	breast:	n/a	n/a
2	RAD21	chr12:106099471-106099867	MCF-7	breast:	n/a	chr12:106099640-106099659
3	CTCF	chr12:106099600-106099750	HBMEC	blood vessel:	n/a	n/a
4	CTCF	chr12:106099531-106099751	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr12:106099560-106099710	BJ	skin:	n/a	n/a
6	CTCF	chr12:106099489-106099795	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr12:106099580-106099730	GM12864	blood:	n/a	n/a
8	CTCF	chr12:106099580-106099730	HBMEC	blood vessel:	n/a	n/a
9	MAZ	chr12:106099607-106099731	GM12878	blood:	n/a	chr12:106099641-106099650
10	CTCF	chr12:106099580-106099730	GM12872	blood:	n/a	n/a
11	CTCF	chr12:106099620-106099770	GM12878	blood:	n/a	n/a
12	CTCF	chr12:106099560-106099710	AG09309	skin:	n/a	n/a
13	CTCF	chr12:106099527-106099782	A549	lung:	n/a	n/a
14	CTCF	chr12:106099560-106099710	AG10803	skin:	n/a	n/a
15	CTCF	chr12:106099580-106099730	HRPEpiC	eye:	n/a	n/a
16	RAD21	chr12:106099510-106099766	H1-hESC	embryonic stem cell:	n/a	chr12:106099640-106099659
17	CTCF	chr12:106099560-106099710	SAEC	small airway:	n/a	n/a
18	CTCF	chr12:106099504-106099806	Medullo	brain:	n/a	n/a
19	CTCF	chr12:106099368-106099899	MCF-7	breast:	n/a	n/a
20	CTCF	chr12:106099580-106099730	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr12:106099600-106099750	HA-sp	spinal cord:	n/a	n/a
22	CTCF	chr12:106099580-106099730	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chr12:106099540-106099690	GM12864	blood:	n/a	n/a
24	CTCF	chr12:106099560-106099710	K562	blood:	n/a	n/a
25	CTCF	chr12:106099540-106099690	HPAF	blood vessel:	n/a	n/a
26	RAD21	chr12:106099411-106099862	H1-hESC	embryonic stem cell:	n/a	chr12:106099640-106099659
27	CTCF	chr12:106099580-106099730	GM12801	blood:	n/a	n/a
28	CTCF	chr12:106099560-106099710	GM12870	blood:	n/a	n/a
29	TCF12	chr12:106099512-106101093	SK-N-SH	brain:	n/a	n/a
30	CTCF	chr12:106099620-106099770	GM12866	blood:	n/a	n/a
31	CTCF	chr12:106099560-106099710	GM12868	blood:	n/a	n/a
32	CTCF	chr12:106099540-106099690	GM12872	blood:	n/a	n/a
33	CTCF	chr12:106099580-106099730	K562	blood:	n/a	n/a
34	CTCF	chr12:106099540-106099690	GM12869	blood:	n/a	n/a
35	SMC3	chr12:106099216-106100498	SK-N-SH	brain:	n/a	n/a
36	CTCF	chr12:106099412-106099838	HepG2	liver:	n/a	n/a
37	CTCF	chr12:106099640-106099790	HepG2	liver:	n/a	n/a
38	CTCF	chr12:106099535-106099792	GM10266	blood:	n/a	n/a
39	CTCF	chr12:106099580-106099730	HCM	heart:	n/a	n/a
40	CTCF	chr12:106099600-106099750	HRE	kidney:	n/a	n/a
41	CTCF	chr12:106099580-106099730	AG04449	skin:	n/a	n/a
42	RAD21	chr12:106099439-106099775	GM12878	blood:	n/a	chr12:106099640-106099659
43	CTCF	chr12:106099571-106099737	GM13976	blood:	n/a	n/a
44	FOS	chr12:106099629-106099805	MCF10A-Er-Src	breast:	n/a	n/a
45	CTCF	chr12:106099540-106099690	HCM	heart:	n/a	n/a
46	CTCF	chr12:106099540-106099690	GM12870	blood:	n/a	n/a
47	ATF2	chr12:106099507-106099870	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr12:106099481-106099866	HepG2	liver:	n/a	chr12:106099640-106099659
49	CTCF	chr12:106099503-106099793	Pancreas_OC	pancreas:	n/a	n/a
50	CTCF	chr12:106099499-106099798	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:106099358..106100248-chr12:106529662..106530556,3	K562	blood:
2	chr12:105814204..105815049-chr12:106099199..106100140,3	MCF-7	breast:
3	chr12:106099637..106100474-chr12:106529654..106530671,3	MCF-7	breast:

No data

Variant related genes	Relation type
CASC18	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10861479	0.94[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133311	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899503	chr12:106021477-106175903	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1047810	chr12:106067049-106246582	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1040261	chr12:106068992-106246582	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv899504	chr12:106095906-106135942	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11112686	CRY1	cis	cerebellum	SCAN
rs11112686	ASCL4	cis	parietal	SCAN
rs11112686	STAB2	cis	cerebellum	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106097400-106099800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:106097400-106101000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr12:106098000-106100600	Enhancers	Fetal Muscle Trunk	muscle
4	chr12:106098000-106101200	Enhancers	Fetal Heart	heart
5	chr12:106098000-106101400	Enhancers	Fetal Muscle Leg	muscle
6	chr12:106098200-106099800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:106098400-106099800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:106098400-106100200	Enhancers	Fetal Lung	lung
9	chr12:106098400-106101400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:106098600-106099800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:106098600-106099800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:106098600-106100000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr12:106098600-106100200	Enhancers	Lung	lung
14	chr12:106098600-106101600	Enhancers	HSMMtube	muscle
15	chr12:106098800-106099800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:106098800-106099800	Weak transcription	Left Ventricle	heart
17	chr12:106098800-106099800	Weak transcription	Right Ventricle	heart
18	chr12:106098800-106101400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:106098800-106101400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr12:106099000-106100000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:106099000-106100200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:106099000-106100200	Enhancers	Brain Cingulate Gyrus	brain
23	chr12:106099000-106101000	Enhancers	Psoas Muscle	Psoas
24	chr12:106099000-106101200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:106099200-106100000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:106099200-106100600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr12:106099200-106100600	Enhancers	HUVEC	blood vessel
28	chr12:106099200-106101400	Enhancers	HSMM	muscle
29	chr12:106099400-106100400	Enhancers	Brain Hippocampus Middle	brain
30	chr12:106099400-106100800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:106099400-106101000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:106099400-106101000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:106099400-106101400	Enhancers	NH-A	brain
34	chr12:106099600-106099800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr12:106099600-106100000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr12:106099600-106100000	Enhancers	Fetal Stomach	stomach
37	chr12:106099600-106100000	Enhancers	Stomach Mucosa	stomach
38	chr12:106099600-106100200	Enhancers	Adipose Nuclei	Adipose
39	chr12:106099600-106100200	Enhancers	Brain Angular Gyrus	brain
40	chr12:106099600-106100200	Enhancers	Brain Anterior Caudate	brain
41	chr12:106099600-106100200	Enhancers	Brain Substantia Nigra	brain
42	chr12:106099600-106100200	Enhancers	Fetal Brain Male	brain
43	chr12:106099600-106100200	Enhancers	Ovary	ovary
44	chr12:106099600-106100200	Enhancers	Right Atrium	heart
45	chr12:106099600-106100800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:106099600-106100800	Enhancers	Aorta	Aorta
47	chr12:106099600-106101000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:106099600-106101000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr12:106099600-106101000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:106099600-106101000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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