Variant report

Variant	rs7788294
Chromosome Location	chr7:100772630-100772631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100770444..100773305-chr7:100773792..100776884,4	K562	blood:
2	chr7:100737172..100740018-chr7:100770691..100773397,2	K562	blood:

Variant related genes	Relation type
ENSG00000260336	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2005742	0.85[ASN][1000 genomes]
rs2227639	0.85[ASN][1000 genomes]
rs2227657	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2227660	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2227663	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2227668	0.81[AMR][1000 genomes]
rs2227694	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6090	0.88[ASN][1000 genomes]
rs7459187	0.92[ASN][1000 genomes]
rs757717	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100770400-100781600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:100770600-100772800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:100770600-100774400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:100770600-100774400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
5	chr7:100770600-100780800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:100770800-100780800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:100770800-100780800	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:100770800-100781000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:100770800-100781800	Weak transcription	Gastric	stomach
10	chr7:100770800-100783000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:100771000-100777200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:100771400-100773200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:100771400-100777000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:100771400-100777200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:100771400-100778200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:100771600-100773400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:100771600-100774200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:100771600-100777000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:100771600-100781200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:100771800-100773600	Enhancers	Placenta	Placenta
21	chr7:100771800-100773600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:100771800-100776800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:100771800-100777000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:100771800-100777000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:100771800-100777000	Weak transcription	Esophagus	oesophagus
26	chr7:100771800-100780600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:100772000-100773600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:100772000-100773600	Weak transcription	Fetal Stomach	stomach
29	chr7:100772000-100773600	Weak transcription	Left Ventricle	heart
30	chr7:100772000-100773600	Active TSS	Right Ventricle	heart
31	chr7:100772000-100773600	Active TSS	HSMM	muscle
32	chr7:100772000-100776600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:100772000-100777000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr7:100772000-100777000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:100772000-100777000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:100772000-100779000	Weak transcription	Spleen	Spleen
37	chr7:100772000-100780600	Weak transcription	Hela-S3	cervix
38	chr7:100772000-100781200	Weak transcription	Psoas Muscle	Psoas
39	chr7:100772000-100781800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:100772000-100797400	Weak transcription	Right Atrium	heart
41	chr7:100772200-100772800	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr7:100772200-100772800	Active TSS	NHDF-Ad	bronchial
43	chr7:100772200-100772800	Active TSS	Osteobl	bone
44	chr7:100772200-100773000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:100772200-100773000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:100772200-100773000	Active TSS	NH-A	brain
47	chr7:100772200-100773000	Active TSS	NHLF	lung
48	chr7:100772200-100773200	Active TSS	HSMMtube	muscle
49	chr7:100772200-100773400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:100772200-100773400	Weak transcription	Liver	Liver

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