Variant report

Variant	rs750830
Chromosome Location	chr11:64163446-64163447
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	ATF2	chr11:64163300-64163802	H1-hESC	embryonic stem cell:	n/a	n/a
2	JUND	chr11:64163374-64163772	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:64163398-64163507	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUN	chr11:64163356-64163567	H1-hESC	embryonic stem cell:	n/a	n/a
5	GABPA	chr11:64163287-64163875	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000231680	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10897491	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10897504	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11231787	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11231789	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11601686	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11603861	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11605289	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1320628	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4930168	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4930175	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4963222	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4963223	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs506594	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs508326	0.95[EUR][1000 genomes]
rs7127926	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72927984	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs750832	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7933523	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
2	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
3	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64154000-64167600	Weak transcription	Right Atrium	heart
2	chr11:64161600-64164000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
3	chr11:64161600-64164200	Enhancers	Fetal Thymus	thymus
4	chr11:64161600-64164200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr11:64161800-64164800	Enhancers	Fetal Muscle Trunk	muscle
6	chr11:64162000-64163800	Enhancers	Liver	Liver
7	chr11:64162000-64163800	Enhancers	Thymus	Thymus
8	chr11:64162000-64164200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr11:64162000-64164200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:64162000-64164400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:64162000-64164400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:64162000-64164800	Enhancers	Fetal Muscle Leg	muscle
13	chr11:64162200-64164200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:64162400-64164400	Enhancers	Fetal Stomach	stomach
15	chr11:64162600-64164000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:64162600-64164200	Enhancers	Adipose Nuclei	Adipose
17	chr11:64162600-64164400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:64162600-64164400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:64162600-64164400	Enhancers	Placenta	Placenta
20	chr11:64162800-64163800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr11:64162800-64164000	Enhancers	Fetal Intestine Small	intestine
22	chr11:64163000-64163800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr11:64163000-64163800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:64163000-64164000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr11:64163000-64164200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:64163000-64164200	Enhancers	Colon Smooth Muscle	Colon
27	chr11:64163000-64164200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr11:64163000-64164200	Enhancers	HSMMtube	muscle
29	chr11:64163000-64164400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:64163000-64164400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:64163000-64164400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:64163000-64164400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:64163000-64164400	Enhancers	Fetal Kidney	kidney
34	chr11:64163200-64163800	Enhancers	Primary B cells from cord blood	blood
35	chr11:64163200-64163800	Weak transcription	Fetal Intestine Large	intestine
36	chr11:64163200-64163800	Enhancers	Ovary	ovary
37	chr11:64163200-64163800	Enhancers	Right Ventricle	heart
38	chr11:64163200-64163800	Enhancers	Spleen	Spleen
39	chr11:64163200-64164000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr11:64163200-64164000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:64163200-64164000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:64163200-64164000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr11:64163200-64164000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr11:64163200-64164000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:64163200-64164000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr11:64163200-64164200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:64163200-64164200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:64163200-64164200	Enhancers	Primary hematopoietic stem cells	blood
49	chr11:64163200-64164200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:64163200-64164200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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