Variant report

Variant	rs11950502
Chromosome Location	chr5:74073584-74073585
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:74072770-74075439	K562	blood:	n/a	n/a
2	POLR2A	chr5:74073538-74074929	PFSK-1	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:74072325..74074602-chr5:74076186..74079025,2	K562	blood:
2	chr5:72801428..72802038-chr5:74073569..74074403,2	MCF-7	breast:
3	chr5:74073102..74074762-chr5:74077525..74079360,2	K562	blood:
4	chr5:74068761..74070273-chr5:74071485..74073703,2	K562	blood:
5	chr5:74063682..74066212-chr5:74072673..74074478,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-1330P	TF binding region
ENSG00000164346	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11950373	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11951326	1.00[AMR][1000 genomes]
rs11952038	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11952887	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11954065	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11955669	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11956317	1.00[AMR][1000 genomes]
rs11957259	1.00[AMR][1000 genomes]
rs11960152	1.00[AMR][1000 genomes]
rs11960413	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1447452	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16872289	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16872292	1.00[AMR][1000 genomes]
rs16872305	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16872321	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1813646	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs35565659	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55828592	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55941676	1.00[AMR][1000 genomes]
rs57371810	1.00[AMR][1000 genomes]
rs60089359	1.00[AMR][1000 genomes]
rs60574440	0.91[AFR][1000 genomes]
rs60746244	1.00[AMR][1000 genomes]
rs61373898	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61589039	1.00[AMR][1000 genomes]
rs6870452	1.00[AMR][1000 genomes]
rs6870609	1.00[AMR][1000 genomes]
rs6871873	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6885078	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs73762944	1.00[AMR][1000 genomes]
rs73762946	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73762947	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73762955	1.00[AMR][1000 genomes]
rs73762957	1.00[AMR][1000 genomes]
rs73762958	1.00[AMR][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	nsv598653	chr5:73992881-74095542	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74064000-74076000	Weak transcription	Esophagus	oesophagus
2	chr5:74064000-74077200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:74064000-74112400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:74064200-74073800	Weak transcription	Small Intestine	intestine
5	chr5:74064200-74076000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:74064200-74086000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:74064200-74102000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:74064400-74073800	Weak transcription	Stomach Mucosa	stomach
9	chr5:74064400-74076600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:74064400-74079600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:74064400-74086600	Weak transcription	Fetal Heart	heart
12	chr5:74064400-74134600	Weak transcription	Fetal Brain Male	brain
13	chr5:74064600-74074400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:74064600-74079400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:74064600-74079600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:74064800-74074000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:74064800-74074400	Strong transcription	Osteobl	bone
18	chr5:74064800-74074600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:74064800-74074600	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:74064800-74074600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:74064800-74074800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:74064800-74074800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr5:74064800-74075000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:74064800-74075000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr5:74064800-74075000	Strong transcription	NH-A	brain
26	chr5:74064800-74079400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:74064800-74079600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:74064800-74080000	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr5:74064800-74080400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:74064800-74101200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:74065000-74074000	Strong transcription	Fetal Intestine Large	intestine
32	chr5:74065000-74074200	Strong transcription	Placenta	Placenta
33	chr5:74065000-74074400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:74065000-74074800	Strong transcription	Fetal Thymus	thymus
35	chr5:74065000-74074800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr5:74065000-74077800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:74065000-74079600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:74065000-74081800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:74065200-74073800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr5:74065200-74076200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr5:74065400-74073800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:74065400-74074400	Strong transcription	Adipose Nuclei	Adipose
43	chr5:74065400-74074800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:74065400-74074800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr5:74065400-74076400	Strong transcription	GM12878-XiMat	blood
46	chr5:74065400-74077800	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr5:74065600-74074400	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr5:74066600-74112800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr5:74066800-74075600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:74067000-74074200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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