Variant report

Variant	rs12418494
Chromosome Location	chr11:10318146-10318147
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	POLR2A	chr11:10318040-10318168	ProgFib	skin:	n/a	n/a
2	POLR2A	chr11:10314166-10319019	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10315206..10317508-chr11:10317757..10321006,5	K562	blood:
2	chr11:10315206..10317508-chr11:10317757..10320050,3	K562	blood:

Variant related genes	Relation type
SBF2	TF binding region
ENSG00000133812	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10743132	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10770106	0.90[ASN][1000 genomes]
rs10840379	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10840384	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10840386	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11042686	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11042689	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11042719	0.81[ASN][1000 genomes]
rs11042721	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11042725	0.81[ASN][1000 genomes]
rs11607621	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12418690	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16907615	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2957671	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2957674	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2957699	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35598338	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3814700	0.80[ASN][1000 genomes]
rs4399321	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4459296	0.92[ASN][1000 genomes]
rs4641466	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57153895	0.84[ASN][1000 genomes]
rs59717668	0.83[ASN][1000 genomes]
rs61889798	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6484160	0.81[ASN][1000 genomes]
rs6484161	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7107727	0.82[ASN][1000 genomes]
rs7927874	0.84[ASN][1000 genomes]
rs7933018	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7935242	0.82[ASN][1000 genomes]
rs7945930	0.81[ASN][1000 genomes]
rs7950461	0.81[ASN][1000 genomes]
rs7952229	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10316600-10319400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:10316600-10320200	Weak transcription	HSMMtube	muscle
3	chr11:10316600-10322000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:10316600-10323800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:10316600-10323800	Weak transcription	Left Ventricle	heart
6	chr11:10316600-10323800	Weak transcription	Ovary	ovary
7	chr11:10316600-10323800	Weak transcription	Right Ventricle	heart
8	chr11:10316600-10324000	Weak transcription	Lung	lung
9	chr11:10316800-10319200	Weak transcription	Fetal Heart	heart
10	chr11:10316800-10320000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:10316800-10322600	Weak transcription	Fetal Kidney	kidney
12	chr11:10316800-10323200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:10317000-10319400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:10317000-10319800	Weak transcription	Osteobl	bone
15	chr11:10317000-10320000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:10317000-10320400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:10317000-10323200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:10317000-10323400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:10317000-10323600	Weak transcription	Adipose Nuclei	Adipose
20	chr11:10317000-10323600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:10317000-10323800	Weak transcription	Colonic Mucosa	Colon
22	chr11:10317000-10323800	Weak transcription	Placenta	Placenta
23	chr11:10317000-10323800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:10317200-10319200	Weak transcription	NHEK	skin
25	chr11:10317200-10319400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:10317200-10319400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr11:10317200-10319400	Weak transcription	HMEC	breast
28	chr11:10317200-10320200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:10317200-10321000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:10317200-10322400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:10317200-10323000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:10317200-10323800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:10317200-10323800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:10317400-10319200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:10317400-10319200	Weak transcription	Fetal Intestine Large	intestine
36	chr11:10317400-10319400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:10317400-10320000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:10317400-10320400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:10317400-10322200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:10317400-10322600	Weak transcription	HepG2	liver
41	chr11:10317400-10323200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:10317400-10323600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr11:10317600-10318200	Enhancers	Small Intestine	intestine
44	chr11:10317600-10318200	Genic enhancers	NHDF-Ad	bronchial
45	chr11:10317600-10318800	Weak transcription	HUVEC	blood vessel
46	chr11:10317600-10319400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:10317600-10319400	Weak transcription	NHLF	lung
48	chr11:10317600-10320000	Weak transcription	A549	lung
49	chr11:10317600-10321200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr11:10317600-10322200	Weak transcription	H1 Cell Line	embryonic stem cell

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