Variant report

Variant	rs73395997
Chromosome Location	chr7:99749691-99749692
allele	A/G
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	chr7:99749057-99752067	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:99749072-99749882	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr7:99749194-99749831	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
LAMTOR4	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4134907	1.00[AMR][1000 genomes]
rs4134908	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4134921	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56695509	1.00[AMR][1000 genomes]
rs59991229	1.00[AMR][1000 genomes]
rs60551236	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60594059	1.00[AMR][1000 genomes]
rs73395916	1.00[AMR][1000 genomes]
rs73395928	1.00[AMR][1000 genomes]
rs73395975	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411443	1.00[AMR][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	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases
7	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer 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 miRNA target site	1085 gene(s)	inside rSNPs	diseases
8	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99747200-99750200	Weak transcription	Spleen	Spleen
2	chr7:99747200-99751000	Weak transcription	Left Ventricle	heart
3	chr7:99747200-99751400	Weak transcription	Aorta	Aorta
4	chr7:99747400-99750800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:99747400-99750800	Weak transcription	Fetal Lung	lung
6	chr7:99747400-99751000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:99747400-99751000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:99747400-99751000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:99747400-99751000	Weak transcription	Esophagus	oesophagus
10	chr7:99747400-99751000	Weak transcription	Gastric	stomach
11	chr7:99747400-99753000	Weak transcription	Ovary	ovary
12	chr7:99747400-99753000	Weak transcription	HSMM	muscle
13	chr7:99747400-99753400	Weak transcription	HSMMtube	muscle
14	chr7:99747400-99754600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:99747400-99754600	Weak transcription	Fetal Heart	heart
16	chr7:99747400-99754600	Weak transcription	Right Atrium	heart
17	chr7:99747400-99755200	Weak transcription	Psoas Muscle	Psoas
18	chr7:99747400-99755600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:99747600-99750000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:99747600-99751000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:99747600-99751000	Weak transcription	Pancreas	Pancrea
22	chr7:99747600-99753400	Weak transcription	NH-A	brain
23	chr7:99747800-99750200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:99747800-99750200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr7:99747800-99750200	Weak transcription	Osteobl	bone
26	chr7:99747800-99750800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:99747800-99750800	Weak transcription	Brain Germinal Matrix	brain
28	chr7:99747800-99750800	Weak transcription	Right Ventricle	heart
29	chr7:99747800-99751200	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr7:99747800-99753400	Weak transcription	Fetal Kidney	kidney
31	chr7:99747800-99754600	Weak transcription	HUVEC	blood vessel
32	chr7:99748000-99750200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:99748000-99751000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:99748000-99751000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:99748000-99751200	Weak transcription	Brain Substantia Nigra	brain
36	chr7:99748000-99751600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:99748000-99753400	Weak transcription	Brain Angular Gyrus	brain
38	chr7:99748000-99755200	Genic enhancers	Primary T cells fromperipheralblood	blood
39	chr7:99748200-99749800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:99748200-99749800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:99748200-99750200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:99748200-99750200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:99748200-99750200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:99748200-99750200	Weak transcription	Adipose Nuclei	Adipose
45	chr7:99748200-99750200	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:99748200-99750200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:99748200-99750200	Weak transcription	Fetal Thymus	thymus
48	chr7:99748200-99750200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:99748200-99750600	Weak transcription	Colonic Mucosa	Colon
50	chr7:99748200-99750800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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