Variant report

Variant	rs73714203
Chromosome Location	chr7:100456384-100456385
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	ZNF263	chr7:100456353-100456482	HEK293-T-REx	kidney:	n/a	n/a

Variant related genes	Relation type
SLC12A9	TF binding region

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17162518	0.95[AFR][1000 genomes]
rs17228616	0.82[AFR][1000 genomes]
rs55833792	0.86[AFR][1000 genomes]
rs57322794	0.95[AFR][1000 genomes]
rs57753967	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58194245	0.95[AFR][1000 genomes]
rs61357484	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7801190	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS 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	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh 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	89 gene(s)	inside rSNPs	diseases
12	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
14	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer 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	90 gene(s)	inside rSNPs	diseases
15	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100451000-100458200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:100451000-100461200	Weak transcription	Stomach Mucosa	stomach
3	chr7:100451000-100463200	Weak transcription	HSMMtube	muscle
4	chr7:100451000-100464200	Weak transcription	Left Ventricle	heart
5	chr7:100451000-100464200	Weak transcription	Small Intestine	intestine
6	chr7:100451000-100464400	Weak transcription	Fetal Kidney	kidney
7	chr7:100451200-100456400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:100451200-100456400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:100451200-100456400	Weak transcription	Fetal Intestine Large	intestine
10	chr7:100451200-100456800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:100451200-100456800	Weak transcription	Brain Angular Gyrus	brain
12	chr7:100451200-100457400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:100451200-100457600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:100451200-100457600	Weak transcription	Right Ventricle	heart
15	chr7:100451200-100457800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:100451200-100457800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr7:100451200-100457800	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:100451200-100457800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:100451200-100457800	Weak transcription	Osteobl	bone
20	chr7:100451200-100458200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:100451200-100458200	Weak transcription	HUVEC	blood vessel
22	chr7:100451200-100460200	Weak transcription	HepG2	liver
23	chr7:100451200-100460400	Weak transcription	Liver	Liver
24	chr7:100451200-100460800	Weak transcription	NH-A	brain
25	chr7:100451200-100461200	Weak transcription	HSMM	muscle
26	chr7:100451200-100463200	Weak transcription	A549	lung
27	chr7:100451200-100463200	Weak transcription	Hela-S3	cervix
28	chr7:100451200-100463200	Weak transcription	NHDF-Ad	bronchial
29	chr7:100451200-100463800	Weak transcription	Right Atrium	heart
30	chr7:100451200-100464200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:100451400-100457400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:100451400-100457600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr7:100451400-100457600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:100451400-100457600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:100451400-100457600	Weak transcription	HMEC	breast
36	chr7:100451400-100457800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:100451400-100464200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:100451600-100461200	Strong transcription	Fetal Intestine Small	intestine
39	chr7:100451800-100458000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:100451800-100462800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:100451800-100464200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:100452000-100456800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:100452000-100457200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr7:100452000-100457600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:100452000-100458000	Weak transcription	K562	blood
46	chr7:100452000-100463400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:100452000-100463600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:100452200-100456400	Strong transcription	Spleen	Spleen
49	chr7:100452200-100461600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:100452200-100463000	Strong transcription	Lung	lung

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