Variant report

Variant	rs10248073
Chromosome Location	chr7:121034252-121034253
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	POLR2A	chr7:121034185-121034385	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:121031072-121037039	K562	blood:	n/a	n/a
3	POLR2A	chr7:121032402-121036821	GM12878	blood:	n/a	n/a
4	CHD1	chr7:121033669-121036769	GM12878	blood:	n/a	chr7:121036306-121036316
5	TBL1XR1	chr7:121034146-121035270	K562	blood:	n/a	n/a
6	POLR2A	chr7:121033574-121035250	HCT-116	colon:	n/a	n/a
7	TBL1XR1	chr7:121034170-121035222	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121033106..121035000-chr7:121064896..121066806,2	K562	blood:
2	chr7:121024298..121027882-chr7:121032352..121035031,6	MCF-7	breast:

Variant related genes	Relation type
CYCSP19	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10236043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10244034	0.90[AFR][1000 genomes]
rs13438125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1819052	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2141361	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697181	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697182	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697183	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697184	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697185	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707523	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707524	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28620394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2952582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4262270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
2	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
3	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120979800-121034800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:120984200-121035000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:121005200-121035000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:121010200-121034600	Weak transcription	Fetal Brain Male	brain
5	chr7:121016000-121035400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:121016200-121035000	Weak transcription	Fetal Stomach	stomach
7	chr7:121016200-121035600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:121018000-121035400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:121018600-121034600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:121018600-121034800	Weak transcription	Fetal Brain Female	brain
11	chr7:121018600-121034800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:121018600-121035600	Weak transcription	Gastric	stomach
13	chr7:121018800-121034400	Weak transcription	Liver	Liver
14	chr7:121018800-121035400	Weak transcription	Placenta	Placenta
15	chr7:121020000-121035400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:121020200-121035000	Weak transcription	Thymus	Thymus
17	chr7:121024800-121035000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:121026200-121034400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:121026200-121034600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:121026200-121034600	Weak transcription	Ovary	ovary
21	chr7:121026200-121034600	Weak transcription	A549	lung
22	chr7:121026200-121034800	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:121026200-121035000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr7:121026200-121035000	Weak transcription	Brain Anterior Caudate	brain
25	chr7:121026200-121035000	Weak transcription	Fetal Kidney	kidney
26	chr7:121026200-121035400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:121026200-121035600	Weak transcription	Left Ventricle	heart
28	chr7:121026200-121035800	Weak transcription	Spleen	Spleen
29	chr7:121026400-121034400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:121026400-121034600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:121026400-121034600	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:121026400-121034800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:121026600-121034400	Weak transcription	HUVEC	blood vessel
34	chr7:121026600-121034600	Weak transcription	Fetal Lung	lung
35	chr7:121026600-121034800	Weak transcription	Adipose Nuclei	Adipose
36	chr7:121026600-121034800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr7:121026600-121035000	Weak transcription	HSMMtube	muscle
38	chr7:121026600-121035400	Weak transcription	Pancreas	Pancrea
39	chr7:121026600-121035600	Weak transcription	Aorta	Aorta
40	chr7:121027000-121034600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:121027800-121034800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:121029400-121034800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr7:121029600-121034600	Weak transcription	NH-A	brain
44	chr7:121030000-121034600	Weak transcription	Brain Angular Gyrus	brain
45	chr7:121030600-121034600	Genic enhancers	Primary B cells from peripheral blood	blood
46	chr7:121030800-121034600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:121030800-121035000	Weak transcription	Fetal Thymus	thymus
48	chr7:121030800-121035600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr7:121031000-121034400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr7:121031200-121034800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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