Variant report

Variant	rs61206375
Chromosome Location	chr7:100763941-100763942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100729038..100731334-chr7:100763689..100766160,2	K562	blood:
2	chr7:100754972..100758673-chr7:100760651..100765191,4	K562	blood:
3	chr7:100733241..100735630-chr7:100761919..100764639,2	K562	blood:
4	chr7:100763715..100766460-chr7:100770326..100771841,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106366	Chromatin interaction
ENSG00000169871	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17135252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2227640	0.88[AFR][1000 genomes]
rs73404894	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1033081	chr7:100669629-100771824	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
6	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
7	nsv464649	chr7:100739682-100810983	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv607972	chr7:100739682-100810983	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS 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	63 gene(s)	inside rSNPs	diseases
10	nsv1018841	chr7:100760410-100868299	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100752400-100764600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:100752600-100765400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:100755000-100764800	Weak transcription	Psoas Muscle	Psoas
4	chr7:100757000-100765400	Enhancers	HUVEC	blood vessel
5	chr7:100757600-100770400	Enhancers	Placenta	Placenta
6	chr7:100759600-100765400	Enhancers	NHDF-Ad	bronchial
7	chr7:100759800-100764000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:100759800-100765400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:100759800-100765400	Enhancers	Osteobl	bone
10	chr7:100760200-100765400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:100760200-100765400	Enhancers	NH-A	brain
12	chr7:100760400-100765200	Enhancers	Ovary	ovary
13	chr7:100760400-100765400	Enhancers	Fetal Muscle Leg	muscle
14	chr7:100760400-100765400	Enhancers	NHLF	lung
15	chr7:100760800-100765200	Enhancers	A549	lung
16	chr7:100760800-100765400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:100761000-100764600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:100761000-100764600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:100761000-100764800	Weak transcription	Stomach Mucosa	stomach
20	chr7:100761000-100765200	Weak transcription	K562	blood
21	chr7:100761200-100764600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:100761400-100765400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:100761800-100765400	Weak transcription	Fetal Lung	lung
24	chr7:100761800-100770400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:100762000-100765200	Weak transcription	Right Atrium	heart
26	chr7:100762000-100765600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr7:100762200-100770200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:100762400-100764600	Weak transcription	Left Ventricle	heart
29	chr7:100762400-100764600	Weak transcription	Right Ventricle	heart
30	chr7:100762800-100765400	Enhancers	Fetal Muscle Trunk	muscle
31	chr7:100763000-100764000	Enhancers	Aorta	Aorta
32	chr7:100763000-100764200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:100763000-100764800	Enhancers	HSMM	muscle
34	chr7:100763000-100765200	Weak transcription	NHEK	skin
35	chr7:100763000-100765600	Enhancers	HSMMtube	muscle
36	chr7:100763200-100764800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:100763200-100770200	Enhancers	Lung	lung
38	chr7:100763400-100764000	Enhancers	Fetal Heart	heart
39	chr7:100763400-100764600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:100763400-100764600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:100763400-100765200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:100763400-100765200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:100763400-100765200	Weak transcription	Spleen	Spleen
44	chr7:100763400-100765200	Enhancers	HepG2	liver
45	chr7:100763400-100765400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:100763400-100765400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr7:100763400-100765400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:100763600-100764600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:100763600-100764600	Weak transcription	Hela-S3	cervix
50	chr7:100763600-100765200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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