Variant report

Variant	rs11950121
Chromosome Location	chr5:53178957-53178958
allele	A/C
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	JUND	chr5:53178427-53179120	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr5:53178550-53178957	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr5:53178453-53179052	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000272416	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10039046	0.82[ASN][1000 genomes]
rs12518967	0.82[ASN][1000 genomes]
rs13356037	0.81[ASN][1000 genomes]
rs13357971	0.80[ASN][1000 genomes]
rs13436176	0.97[CHD][hapmap]
rs1587797	0.82[ASN][1000 genomes]
rs2407068	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs271244	0.92[CHB][hapmap]
rs4865793	0.97[CHD][hapmap]
rs56086233	0.86[EUR][1000 genomes]
rs62372367	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1032504	chr5:52908394-53398435	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv537763	chr5:52908394-53398435	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv830298	chr5:52973912-53193398	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv533778	chr5:53092696-53284566	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1019194	chr5:53104869-53178957	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv513237	chr5:53175971-53179281	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53170200-53181800	Weak transcription	Spleen	Spleen
2	chr5:53173800-53227800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:53174200-53186400	Weak transcription	Left Ventricle	heart
4	chr5:53174400-53211000	Weak transcription	K562	blood
5	chr5:53175400-53183400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:53175400-53186400	Weak transcription	Primary T cells from cord blood	blood
7	chr5:53176000-53187200	Weak transcription	Esophagus	oesophagus
8	chr5:53176600-53180800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:53176600-53189000	Weak transcription	Fetal Intestine Large	intestine
10	chr5:53176600-53190400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:53176800-53179200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:53176800-53181000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:53177000-53212800	Weak transcription	Fetal Intestine Small	intestine
14	chr5:53177200-53180800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:53177400-53179200	Enhancers	NHDF-Ad	bronchial
16	chr5:53177400-53179400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:53177400-53181000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:53177400-53188600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:53177600-53179200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:53177600-53179200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:53177600-53179600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:53177600-53180800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:53177600-53182400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:53177600-53189000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr5:53178000-53179000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr5:53178000-53179000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:53178000-53179200	Enhancers	NHLF	lung
28	chr5:53178000-53181000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr5:53178000-53190800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:53178200-53179000	Enhancers	Osteobl	bone
31	chr5:53178400-53179000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:53178400-53179000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:53178400-53179000	Enhancers	HSMMtube	muscle
34	chr5:53178400-53179200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:53178400-53190800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:53178600-53179000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr5:53178600-53179200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr5:53178600-53179200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:53178600-53179800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:53178600-53180200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:53178800-53179200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr5:53178800-53180400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr5:53178800-53180400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:53178800-53180800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:53178800-53186600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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