Variant report

Variant	rs11851475
Chromosome Location	chr14:81952649-81952650
allele	A/G
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	RAD21	chr14:81952623-81952809	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SEL1L	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10142746	1.00[ASN][1000 genomes]
rs10144172	1.00[ASN][1000 genomes]
rs11846082	0.82[LWK][hapmap];1.00[AMR][1000 genomes]
rs11846663	0.81[LWK][hapmap];1.00[AMR][1000 genomes]
rs11846666	0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846697	1.00[MEX][hapmap]
rs11848548	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883451	1.00[AMR][1000 genomes]
rs17111687	1.00[TSI][hapmap]
rs17115590	1.00[ASN][1000 genomes]
rs60944245	1.00[ASN][1000 genomes]
rs7144154	1.00[AMR][1000 genomes]
rs7149494	1.00[TSI][hapmap]
rs7154698	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158459	1.00[AMR][1000 genomes]
rs7158559	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74064993	1.00[ASN][1000 genomes]
rs8008992	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8020513	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8022069	0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81931400-81955000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:81938000-81952800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:81938000-81954600	Weak transcription	Fetal Heart	heart
4	chr14:81938400-81971000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:81938400-81973400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr14:81938400-81974000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:81938400-81977000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:81938600-81955000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:81938600-81959800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:81938600-81963400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:81938800-81977600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:81939600-81960000	Weak transcription	Stomach Mucosa	stomach
13	chr14:81939600-81974600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr14:81940000-81971200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:81940600-81975000	Strong transcription	Liver	Liver
16	chr14:81941200-81955800	Strong transcription	Left Ventricle	heart
17	chr14:81941200-81957000	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr14:81941200-81973800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr14:81941200-81973800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr14:81941400-81972200	Strong transcription	Fetal Intestine Large	intestine
21	chr14:81941400-81972400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr14:81941400-81975600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:81941600-81955000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:81941600-81974600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:81941600-81975000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:81941600-81975200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:81941800-81975000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr14:81941800-81985600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr14:81942000-81975000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:81942000-81976600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr14:81942400-81957400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:81942600-81975000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr14:81943400-81976400	Strong transcription	Dnd41	blood
34	chr14:81943600-81977000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr14:81944600-81971800	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr14:81944800-81958200	Strong transcription	HSMM	muscle
37	chr14:81945200-81953400	Weak transcription	K562	blood
38	chr14:81946000-81953600	Weak transcription	Aorta	Aorta
39	chr14:81946000-81954600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr14:81947000-81955000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:81947200-81974800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr14:81947400-81953600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:81947400-81953600	Weak transcription	Esophagus	oesophagus
44	chr14:81947400-81953600	Weak transcription	Gastric	stomach
45	chr14:81947400-81954800	Weak transcription	Pancreas	Pancrea
46	chr14:81947400-81954800	Weak transcription	Spleen	Spleen
47	chr14:81947400-81955000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:81947400-81955000	Weak transcription	Fetal Brain Male	brain
49	chr14:81948400-81955800	Strong transcription	Fetal Muscle Leg	muscle
50	chr14:81948400-81974400	Strong transcription	Placenta	Placenta

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