Variant report

Variant	rs72774053
Chromosome Location	chr10:5728948-5728949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5486978..5493668-chr10:5725151..5730020,10	MCF-7	breast:
2	chr10:5586412..5588997-chr10:5727556..5730290,2	MCF-7	breast:
3	chr10:5727488..5729665-chr10:5929692..5932614,2	MCF-7	breast:
4	chr10:5727747..5730181-chr10:5782433..5784785,2	K562	blood:
5	chr10:5725239..5729489-chr10:5854026..5858186,8	K562	blood:
6	chr10:5487977..5491757-chr10:5726753..5729135,3	MCF-7	breast:
7	chr10:5727335..5729854-chr10:5777449..5779108,2	K562	blood:
8	chr10:5724077..5727016-chr10:5727404..5730062,2	K562	blood:
9	chr10:5726952..5729225-chr10:5806393..5808626,2	MCF-7	breast:
10	chr10:4911567..4913119-chr10:5727909..5730757,2	K562	blood:
11	chr10:5728149..5729932-chr10:5839231..5841919,2	K562	blood:
12	chr10:5648373..5651329-chr10:5728348..5730813,2	K562	blood:
13	chr10:5725503..5729426-chr10:5853777..5860412,5	MCF-7	breast:
14	chr10:5725427..5729550-chr10:5853446..5856157,4	MCF-7	breast:
15	chr10:5728757..5730539-chr10:5931112..5932706,2	K562	blood:
16	chr10:5726920..5728949-chr10:5933520..5936437,2	K562	blood:
17	chr10:5484441..5486510-chr10:5728306..5731305,2	MCF-7	breast:
18	chr10:5726775..5729176-chr10:5734287..5736106,2	MCF-7	breast:
19	chr10:5696053..5698803-chr10:5727232..5729360,2	K562	blood:
20	chr10:5487869..5490146-chr10:5727753..5729878,2	K562	blood:
21	chr10:5725094..5729377-chr10:5927689..5933777,6	MCF-7	breast:
22	chr10:5488619..5490146-chr10:5727561..5729878,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000057608	Chromatin interaction
ENSG00000272764	Chromatin interaction
ENSG00000134461	Chromatin interaction
ENSG00000173848	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000108021	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs2386621	1.00[AMR][1000 genomes]
rs2669142	1.00[EUR][1000 genomes]
rs41290259	1.00[EUR][1000 genomes]
rs55804524	0.92[EUR][1000 genomes]
rs56254903	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60525381	0.82[EUR][1000 genomes]
rs7073359	0.92[EUR][1000 genomes]
rs7076354	0.82[EUR][1000 genomes]
rs72772158	0.82[AFR][1000 genomes]
rs72772159	0.82[AFR][1000 genomes]
rs72772332	0.91[EUR][1000 genomes]
rs72772333	0.91[EUR][1000 genomes]
rs72772338	1.00[EUR][1000 genomes]
rs72772346	0.82[EUR][1000 genomes]
rs72772350	0.82[EUR][1000 genomes]
rs72772365	0.82[EUR][1000 genomes]
rs72772367	0.82[EUR][1000 genomes]
rs72772373	0.82[EUR][1000 genomes]
rs72772377	0.82[EUR][1000 genomes]
rs72772378	0.82[EUR][1000 genomes]
rs72772401	0.82[EUR][1000 genomes]
rs72774050	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72774058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72774062	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72774076	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72774079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7915532	0.82[EUR][1000 genomes]
rs7921582	1.00[EUR][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	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	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv549895	chr10:5712310-5735648	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1796213	chr10:5716555-5766165	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv522415	chr10:5721653-5768493	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	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
8	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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5726600-5729000	Active TSS	K562	blood
2	chr10:5726600-5730400	Active TSS	GM12878-XiMat	blood
3	chr10:5727600-5729600	Weak transcription	Small Intestine	intestine
4	chr10:5727600-5730400	Weak transcription	Spleen	Spleen
5	chr10:5727800-5733800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:5728000-5729000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:5728000-5734400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:5728200-5729000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:5728200-5729000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:5728200-5729200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr10:5728200-5729200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:5728200-5729400	Weak transcription	Left Ventricle	heart
13	chr10:5728200-5729400	Enhancers	Rectal Smooth Muscle	rectum
14	chr10:5728200-5729600	Weak transcription	Ovary	ovary
15	chr10:5728200-5730200	Weak transcription	Pancreas	Pancrea
16	chr10:5728200-5730400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr10:5728200-5730400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr10:5728200-5731400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr10:5728200-5733600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:5728200-5733800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:5728200-5733800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr10:5728200-5733800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:5728200-5733800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr10:5728200-5733800	Weak transcription	Fetal Muscle Leg	muscle
25	chr10:5728200-5733800	Weak transcription	Gastric	stomach
26	chr10:5728200-5733800	Weak transcription	Lung	lung
27	chr10:5728200-5734000	Weak transcription	Esophagus	oesophagus
28	chr10:5728200-5734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:5728200-5734400	Weak transcription	Aorta	Aorta
30	chr10:5728400-5729200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr10:5728400-5729200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr10:5728400-5729400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr10:5728400-5730400	Weak transcription	Fetal Intestine Small	intestine
34	chr10:5728400-5730800	Enhancers	Primary B cells from cord blood	blood
35	chr10:5728400-5731000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr10:5728400-5731600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr10:5728400-5734400	Weak transcription	HSMM	muscle
38	chr10:5728600-5729000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr10:5728600-5729000	Weak transcription	Stomach Mucosa	stomach
40	chr10:5728600-5729000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr10:5728600-5729200	Active TSS	Primary hematopoietic stem cells	blood
42	chr10:5728600-5729400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr10:5728600-5729600	Enhancers	Brain Angular Gyrus	brain
44	chr10:5728600-5730600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:5728600-5731000	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr10:5728600-5731400	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr10:5728600-5731400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr10:5728600-5731600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:5728600-5732400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr10:5728600-5732400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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