Variant report

Variant	rs74114943
Chromosome Location	chr10:5590285-5590286
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5496908..5513504-chr10:5583876..5597686,82	MCF-7	breast:
2	chr10:5587548..5591449-chr10:5726365..5728236,4	MCF-7	breast:
3	chr10:5590216..5591949-chr10:5612041..5614492,2	MCF-7	breast:
4	chr10:5580577..5583353-chr10:5588383..5590307,3	K562	blood:
5	chr10:5527035..5528745-chr10:5588674..5591554,2	K562	blood:
6	chr10:5589713..5592191-chr10:5816215..5819023,2	MCF-7	breast:
7	chr10:5589918..5590450-chr10:5701824..5702522,2	MCF-7	breast:
8	chr10:5589034..5590699-chr10:5646988..5649600,2	MCF-7	breast:
9	chr10:5585149..5591741-chr10:5652577..5661008,17	MCF-7	breast:
10	chr10:5585944..5594625-chr10:5661457..5667151,17	MCF-7	breast:
11	chr10:3110850..3113792-chr10:5588161..5590557,2	MCF-7	breast:
12	chr10:5586562..5592727-chr10:5636153..5640876,13	MCF-7	breast:
13	chr10:5583637..5601494-chr10:5650599..5672411,88	MCF-7	breast:
14	chr10:5587706..5590617-chr10:5700904..5703703,3	MCF-7	breast:
15	chr10:5588561..5590759-chr16:81347524..81350066,2	MCF-7	breast:
16	chr10:5589894..5591628-chr10:5645906..5647922,4	MCF-7	breast:
17	chr10:5589141..5591832-chr10:5607489..5609696,2	MCF-7	breast:
18	chr10:5586583..5591953-chr10:5698330..5703488,13	MCF-7	breast:
19	chr10:5590163..5594025-chr10:5603486..5606859,3	K562	blood:
20	chr10:5580025..5582244-chr10:5589635..5591706,2	K562	blood:
21	chr10:5586195..5588130-chr10:5588608..5590503,2	K562	blood:
22	chr10:5584975..5598212-chr10:5621607..5634806,86	MCF-7	breast:
23	chr10:5588926..5596967-chr10:5614767..5621599,13	MCF-7	breast:
24	chr10:5588202..5590843-chr7:101522769..101524342,2	MCF-7	breast:
25	chr1:37945430..37947743-chr10:5589159..5591132,2	MCF-7	breast:
26	chr10:5585544..5594047-chr10:5703661..5709987,18	MCF-7	breast:
27	chr10:5485039..5496687-chr10:5584772..5598184,85	MCF-7	breast:
28	chr10:5520840..5523317-chr10:5589308..5592399,3	K562	blood:
29	chr10:5550306..5552417-chr10:5588697..5590439,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261609	Chromatin interaction
ENSG00000108021	Chromatin interaction
ENSG00000231483	Chromatin interaction
ENSG00000196372	Chromatin interaction
ENSG00000228685	Chromatin interaction
ENSG00000270427	Chromatin interaction
ENSG00000163874	Chromatin interaction
ENSG00000242147	Chromatin interaction
ENSG00000173848	Chromatin interaction
ENSG00000067057	Chromatin interaction
ENSG00000228951	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs58597212	1.00[AMR][1000 genomes]
rs58695646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7082604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7087503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114930	1.00[AMR][1000 genomes]
rs74114936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114949	1.00[AMR][1000 genomes]
rs74114953	1.00[AMR][1000 genomes]
rs74114956	1.00[AMR][1000 genomes]
rs74114959	1.00[AMR][1000 genomes]
rs74114987	1.00[AMR][1000 genomes]
rs74114988	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv932104	chr10:5203626-5641023	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv549886	chr10:5205437-5632060	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv1054865	chr10:5225305-5638119	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv831774	chr10:5463556-5657421	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv894798	chr10:5503610-5670275	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1051283	chr10:5505474-5619941	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1049523	chr10:5542109-5619941	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv523491	chr10:5542109-5720067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv1052002	chr10:5544571-5619941	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv1038479	chr10:5545773-5619941	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	esv2757364	chr10:5557024-5720512	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	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
14	nsv894800	chr10:5572893-5621628	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5586000-5591200	Enhancers	Liver	Liver
2	chr10:5586200-5591400	Enhancers	Pancreas	Pancrea
3	chr10:5586200-5591400	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr10:5586200-5596600	Enhancers	Placenta	Placenta
5	chr10:5586200-5597000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:5586400-5591800	Enhancers	NHLF	lung
7	chr10:5586400-5592600	Enhancers	Fetal Lung	lung
8	chr10:5586400-5597800	Enhancers	Esophagus	oesophagus
9	chr10:5586800-5590600	Enhancers	Small Intestine	intestine
10	chr10:5587000-5591200	Enhancers	Fetal Muscle Trunk	muscle
11	chr10:5587000-5591800	Enhancers	Lung	lung
12	chr10:5587000-5592000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr10:5587000-5597600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:5587200-5591000	Enhancers	Left Ventricle	heart
15	chr10:5587200-5591200	Flanking Active TSS	A549	lung
16	chr10:5587200-5591400	Flanking Active TSS	Hela-S3	cervix
17	chr10:5587200-5591800	Enhancers	NHDF-Ad	bronchial
18	chr10:5587200-5594200	Enhancers	Fetal Muscle Leg	muscle
19	chr10:5587400-5591400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:5587400-5593200	Weak transcription	Thymus	Thymus
21	chr10:5587600-5596800	Enhancers	Fetal Thymus	thymus
22	chr10:5587800-5594400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr10:5588400-5590800	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr10:5588400-5608200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr10:5588600-5592000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr10:5588800-5590800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr10:5588800-5591400	Flanking Active TSS	HepG2	liver
28	chr10:5589000-5590400	Weak transcription	Aorta	Aorta
29	chr10:5589000-5591000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr10:5589000-5591000	Enhancers	Fetal Stomach	stomach
31	chr10:5589200-5590400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:5589200-5590600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr10:5589200-5590800	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr10:5589200-5591000	Flanking Active TSS	Colonic Mucosa	Colon
35	chr10:5589200-5591200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr10:5589400-5590400	Weak transcription	Gastric	stomach
37	chr10:5589400-5590800	Enhancers	Primary hematopoietic stem cells	blood
38	chr10:5589400-5591000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr10:5589400-5591000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr10:5589400-5591000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr10:5589400-5597000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr10:5589600-5590400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr10:5589600-5590400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr10:5589600-5590400	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr10:5589600-5590400	Active TSS	Brain Cingulate Gyrus	brain
46	chr10:5589600-5590400	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr10:5589600-5590400	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr10:5589600-5590600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr10:5589600-5590800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr10:5589600-5590800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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