Variant report

Variant	rs12276145
Chromosome Location	chr11:87037202-87037203
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	GATA3	chr11:87036454-87037218	SH-SY5Y	brain:	n/a	n/a
2	GATA2	chr11:87036442-87037476	SH-SY5Y	brain:	n/a	n/a
3	EP300	chr11:87036064-87037325	SK-N-SH	brain:	n/a	chr11:87037124-87037138
4	POLR2A	chr11:87035892-87046208	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:87028128..87030970-chr11:87034928..87037460,2	K562	blood:
2	chr11:87033324..87035687-chr11:87036494..87038979,2	K562	blood:

Variant related genes	Relation type
ENSG00000270510	TF binding region
ENSG00000270510	Chromatin interaction
ENSG00000166575	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10792942	0.86[CEU][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10792943	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10792944	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10898662	0.83[AFR][1000 genomes]
rs10898667	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898669	0.92[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10898673	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10898674	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10898675	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10898677	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11235084	0.83[AFR][1000 genomes]
rs11235085	0.83[AFR][1000 genomes]
rs11235087	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11235088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11235104	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11235105	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11235106	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11235107	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11235109	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11604458	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12272915	0.83[AFR][1000 genomes]
rs12279942	0.83[AFR][1000 genomes]
rs12281655	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12294015	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12295057	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12295490	0.81[ASN][1000 genomes]
rs12361047	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12363349	0.88[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12363892	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12790362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186727	0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4536247	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944698	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944700	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944701	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7125381	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv521810	chr11:87034696-87037680	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87012000-87040400	Weak transcription	Fetal Intestine Small	intestine
2	chr11:87012800-87044200	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:87014400-87047400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:87015600-87039800	Weak transcription	Fetal Stomach	stomach
5	chr11:87015800-87040800	Weak transcription	Left Ventricle	heart
6	chr11:87018000-87039800	Weak transcription	Ovary	ovary
7	chr11:87018000-87040000	Weak transcription	Aorta	Aorta
8	chr11:87018000-87042800	Weak transcription	Lung	lung
9	chr11:87018200-87040800	Weak transcription	Small Intestine	intestine
10	chr11:87019800-87038000	Weak transcription	A549	lung
11	chr11:87020800-87039800	Weak transcription	HMEC	breast
12	chr11:87021600-87042400	Weak transcription	HSMMtube	muscle
13	chr11:87022000-87040600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:87025200-87039600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:87025400-87040800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:87026400-87041000	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:87027600-87043800	Weak transcription	Fetal Kidney	kidney
18	chr11:87028200-87041000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:87028400-87040000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:87029400-87037600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:87029400-87037800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:87030400-87040200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:87031400-87039400	Weak transcription	Esophagus	oesophagus
24	chr11:87032600-87038400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:87033000-87038800	Weak transcription	Fetal Intestine Large	intestine
26	chr11:87033000-87040400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:87033200-87038800	Weak transcription	K562	blood
28	chr11:87033200-87038800	Weak transcription	NHDF-Ad	bronchial
29	chr11:87033200-87039000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:87033200-87039800	Weak transcription	HUVEC	blood vessel
31	chr11:87033200-87041400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr11:87033400-87038800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr11:87033400-87040200	Weak transcription	HepG2	liver
34	chr11:87033400-87040800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:87033600-87039800	Weak transcription	Brain Anterior Caudate	brain
36	chr11:87033600-87041200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:87033600-87044200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:87033800-87037400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:87033800-87040800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr11:87033800-87042800	Weak transcription	Placenta	Placenta
41	chr11:87034000-87038400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:87034400-87037400	Enhancers	Fetal Lung	lung
43	chr11:87034400-87038000	Weak transcription	Pancreas	Pancrea
44	chr11:87035000-87039200	Strong transcription	Primary T cells from cord blood	blood
45	chr11:87035000-87041800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:87035400-87039800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:87036000-87037400	Enhancers	Fetal Muscle Leg	muscle
48	chr11:87036800-87038400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:87036800-87040200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:87036800-87040600	Weak transcription	Adipose Nuclei	Adipose

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