Variant report

Variant	rs73711117
Chromosome Location	chr7:100112772-100112773
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100024662..100027594-chr7:100111226..100113394,3	K562	blood:
2	chr7:100101177..100103275-chr7:100111014..100113501,2	MCF-7	breast:
3	chr7:100109320..100110996-chr7:100111395..100113903,2	K562	blood:
4	chr7:100110542..100112845-chr7:100134966..100137603,2	K562	blood:
5	chr7:100079728..100082488-chr7:100111418..100113975,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146834	Chromatin interaction
ENSG00000106351	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000266372	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56854887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58742225	1.00[AMR][1000 genomes]
rs59009660	1.00[AMR][1000 genomes]
rs61385156	1.00[AMR][1000 genomes]
rs61423399	1.00[AMR][1000 genomes]
rs61679952	1.00[AMR][1000 genomes]
rs73711111	1.00[AMR][1000 genomes]
rs73711116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711124	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711138	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
5	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
6	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
7	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
8	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv527050	chr7:100056166-100125975	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
11	nsv888783	chr7:100073292-100136241	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv518760	chr7:100110324-100119643	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv522427	chr7:100110324-100119643	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100091800-100136200	Weak transcription	Right Atrium	heart
2	chr7:100104400-100112800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:100107200-100112800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:100107200-100112800	Weak transcription	Fetal Lung	lung
5	chr7:100107400-100112800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:100107400-100113200	Weak transcription	Placenta	Placenta
7	chr7:100109400-100114200	Enhancers	K562	blood
8	chr7:100111400-100116400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr7:100111800-100112800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:100111800-100113400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr7:100111800-100114600	Enhancers	NHDF-Ad	bronchial
12	chr7:100111800-100114600	Enhancers	NHLF	lung
13	chr7:100112200-100114600	Enhancers	Fetal Muscle Leg	muscle
14	chr7:100112400-100113000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:100112400-100113000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:100112400-100113400	Enhancers	HUVEC	blood vessel
17	chr7:100112400-100113800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr7:100112400-100113800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:100112400-100114000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr7:100112400-100114200	Enhancers	Adipose Nuclei	Adipose
21	chr7:100112400-100114400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:100112600-100112800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:100112600-100113000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:100112600-100113000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr7:100112600-100113000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:100112600-100113200	Enhancers	A549	lung
27	chr7:100112600-100113400	Enhancers	HSMM	muscle
28	chr7:100112600-100113400	Enhancers	NH-A	brain
29	chr7:100112600-100113600	Enhancers	Primary T cells from cord blood	blood
30	chr7:100112600-100113600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:100112600-100113600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr7:100112600-100113800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr7:100112600-100113800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:100112600-100113800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr7:100112600-100113800	Enhancers	GM12878-XiMat	blood
36	chr7:100112600-100114000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr7:100112600-100114000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:100112600-100114000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr7:100112600-100114200	Enhancers	Hela-S3	cervix
40	chr7:100112600-100114200	Enhancers	HepG2	liver
41	chr7:100112600-100114200	Enhancers	Osteobl	bone
42	chr7:100112600-100114400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:100112600-100114400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:100112600-100114400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:100112600-100114400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr7:100112600-100114400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:100112600-100114400	Enhancers	Fetal Muscle Trunk	muscle
48	chr7:100112600-100114400	Enhancers	Fetal Stomach	stomach
49	chr7:100112600-100114400	Enhancers	HMEC	breast
50	chr7:100112600-100114400	Enhancers	HSMMtube	muscle

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