Variant report

Variant	rs11597948
Chromosome Location	chr10:5812057-5812058
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	E2F4	chr10:5811830-5812081	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr10:5811229-5812060	HepG2	liver:	n/a	n/a
3	POLR2A	chr10:5811548-5812107	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5810148..5812616-chr10:5855203..5857512,4	K562	blood:

Variant related genes	Relation type
GDI2	TF binding region
ENSG00000272764	Chromatin interaction
ENSG00000057608	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10508297	1.00[EUR][1000 genomes]
rs11592184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11592260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11592964	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11593616	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11594153	1.00[ASN][1000 genomes]
rs11595445	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11595457	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11595970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11596603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11596815	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11597597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11598319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11598629	1.00[AMR][1000 genomes]
rs2892072	0.83[ASN][1000 genomes]
rs4749325	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57034347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57075354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58782668	1.00[ASN][1000 genomes]
rs59511159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60255716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61611877	1.00[AMR][1000 genomes]
rs61658636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' 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
4	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
5	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5762600-5843400	Strong transcription	Dnd41	blood
2	chr10:5762800-5843000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:5768000-5849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:5781400-5818600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:5783400-5816600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr10:5784800-5818000	Weak transcription	Stomach Mucosa	stomach
7	chr10:5786200-5816400	Weak transcription	Right Atrium	heart
8	chr10:5788000-5818000	Strong transcription	Duodenum Mucosa	Duodenum
9	chr10:5795000-5817800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:5796000-5822400	Strong transcription	Fetal Intestine Large	intestine
11	chr10:5797200-5819000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr10:5797400-5816600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr10:5797400-5816800	Strong transcription	Fetal Thymus	thymus
14	chr10:5797400-5847400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr10:5797600-5812200	Strong transcription	Primary hematopoietic stem cells	blood
16	chr10:5797600-5812200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr10:5797600-5812400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr10:5797600-5814600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr10:5797600-5816200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:5797600-5817200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:5797600-5817800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr10:5797600-5817800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr10:5797800-5816400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr10:5798000-5812600	Strong transcription	HMEC	breast
25	chr10:5798000-5817000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:5798000-5817600	Strong transcription	Primary B cells from cord blood	blood
27	chr10:5798000-5818200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr10:5798000-5842800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr10:5798200-5815400	Strong transcription	NH-A	brain
30	chr10:5798200-5817000	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr10:5798200-5843000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr10:5798400-5816600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr10:5798400-5817800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr10:5798400-5817800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr10:5798600-5812200	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr10:5798600-5812200	Strong transcription	HSMM	muscle
37	chr10:5798600-5812200	Strong transcription	K562	blood
38	chr10:5798600-5815200	Strong transcription	Adipose Nuclei	Adipose
39	chr10:5798600-5817000	Strong transcription	Placenta	Placenta
40	chr10:5798600-5817400	Strong transcription	Osteobl	bone
41	chr10:5798600-5817800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr10:5798600-5818400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr10:5798600-5820200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr10:5798600-5842800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr10:5798800-5812200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr10:5798800-5812200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr10:5798800-5815200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr10:5798800-5817800	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr10:5799000-5812200	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr10:5799000-5812200	Strong transcription	NHEK	skin

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