Variant report

Variant	rs73374668
Chromosome Location	chr7:65542078-65542079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:65439470..65441298-chr7:65540371..65542201,2	K562	blood:
2	chr7:65538951..65542131-chr7:65578976..65581332,4	MCF-7	breast:
3	chr7:65540799..65542994-chr7:65578683..65581272,2	MCF-7	breast:
4	chr7:65540457..65542538-chr7:65550059..65552910,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126522	Chromatin interaction
ENSG00000249319	Chromatin interaction
ENSG00000241258	Chromatin interaction
ENSG00000169919	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs60497626	1.00[AFR][1000 genomes]
rs73365446	1.00[AFR][1000 genomes]
rs73365475	1.00[AFR][1000 genomes]
rs73372701	1.00[AFR][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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv984546	chr7:65531382-65556631	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65540400-65542200	Active TSS	Fetal Kidney	kidney
2	chr7:65540400-65542800	Active TSS	Fetal Intestine Large	intestine
3	chr7:65540600-65542800	Active TSS	Liver	Liver
4	chr7:65540800-65542400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:65541000-65542200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr7:65541000-65542200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr7:65541200-65542200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:65541200-65542200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:65541200-65542200	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr7:65541200-65542200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:65541200-65542200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:65541200-65542200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:65541200-65542200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr7:65541200-65542200	Flanking Active TSS	Pancreas	Pancrea
15	chr7:65541200-65542200	Flanking Active TSS	Hela-S3	cervix
16	chr7:65541200-65542200	Flanking Active TSS	HMEC	breast
17	chr7:65541200-65542200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr7:65541200-65542400	Flanking Active TSS	Colonic Mucosa	Colon
19	chr7:65541200-65542400	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr7:65541200-65542400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr7:65541200-65542400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr7:65541400-65542200	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr7:65541400-65542200	Flanking Active TSS	K562	blood
24	chr7:65541400-65542200	Flanking Active TSS	NH-A	brain
25	chr7:65541400-65542200	Flanking Active TSS	NHEK	skin
26	chr7:65541600-65542200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:65541600-65542200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr7:65541600-65542200	Flanking Active TSS	Stomach Mucosa	stomach
29	chr7:65541600-65542400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:65541600-65542400	Enhancers	Primary B cells from peripheral blood	blood
31	chr7:65541600-65542400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr7:65541600-65542400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
33	chr7:65541600-65543000	Enhancers	Fetal Heart	heart
34	chr7:65541600-65543200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:65541600-65543200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr7:65541600-65543400	Enhancers	Spleen	Spleen
37	chr7:65541600-65549600	Weak transcription	Thymus	Thymus
38	chr7:65541600-65565000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:65541800-65542200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr7:65541800-65542200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr7:65541800-65542200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:65541800-65542200	Enhancers	Brain Anterior Caudate	brain
43	chr7:65541800-65542200	Enhancers	Colon Smooth Muscle	Colon
44	chr7:65541800-65542200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr7:65541800-65542200	Enhancers	Left Ventricle	heart
46	chr7:65541800-65542200	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr7:65541800-65542400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:65541800-65542400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:65541800-65542400	Enhancers	Fetal Muscle Trunk	muscle
50	chr7:65541800-65542400	Active TSS	Rectal Smooth Muscle	rectum

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