Variant report

Variant	rs7844193
Chromosome Location	chr8:100165214-100165215
allele	G/T
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	chr8:100165068-100165222	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100165081..100167634-chr8:100170824..100172995,2	K562	blood:

Variant related genes	Relation type
VPS13B	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs57234727	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60420184	0.87[AFR][1000 genomes]
rs6995743	0.94[AFR][1000 genomes]
rs6997344	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73699945	0.81[AFR][1000 genomes]
rs73699946	0.82[AFR][1000 genomes]
rs73699949	0.83[AFR][1000 genomes]
rs73699950	0.83[AFR][1000 genomes]
rs73699966	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73699970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73702012	0.87[AMR][1000 genomes]
rs7816170	0.87[AMR][1000 genomes]
rs7819569	0.86[AFR][1000 genomes]
rs7830122	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1020174	chr8:99978271-100168938	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv539693	chr8:99978271-100168938	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv2758166	chr8:100028848-100196681	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv2759632	chr8:100028848-100196681	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	esv1844715	chr8:100046692-100191783	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	nsv932917	chr8:100074076-100193594	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
15	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv933589	chr8:100127908-100232809	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
17	nsv821659	chr8:100147641-100369829	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100103400-100175600	Weak transcription	NHEK	skin
2	chr8:100108200-100173000	Weak transcription	Hela-S3	cervix
3	chr8:100109200-100197600	Weak transcription	HUVEC	blood vessel
4	chr8:100109600-100198000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:100122000-100201200	Weak transcription	Gastric	stomach
6	chr8:100131000-100176000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:100131800-100197600	Weak transcription	Lung	lung
8	chr8:100134000-100171200	Weak transcription	Brain Angular Gyrus	brain
9	chr8:100143200-100166800	Weak transcription	HMEC	breast
10	chr8:100151000-100188200	Weak transcription	Aorta	Aorta
11	chr8:100157800-100165400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:100158000-100189400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:100159200-100166600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:100159600-100168600	Weak transcription	Stomach Mucosa	stomach
15	chr8:100160400-100165600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:100161200-100172000	Weak transcription	Pancreas	Pancrea
17	chr8:100161400-100166600	Weak transcription	Fetal Heart	heart
18	chr8:100161400-100188600	Weak transcription	Spleen	Spleen
19	chr8:100161400-100202000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:100161600-100168400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:100161600-100173400	Weak transcription	HSMMtube	muscle
22	chr8:100161600-100175800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr8:100161600-100179400	Weak transcription	Placenta	Placenta
24	chr8:100162200-100170400	Weak transcription	Esophagus	oesophagus
25	chr8:100162200-100174600	Weak transcription	Fetal Stomach	stomach
26	chr8:100162200-100178400	Weak transcription	Psoas Muscle	Psoas
27	chr8:100163000-100197000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:100163000-100198800	Weak transcription	HSMM	muscle
29	chr8:100163200-100165800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:100163200-100165800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr8:100163200-100173000	Weak transcription	NHDF-Ad	bronchial
32	chr8:100163200-100173400	Weak transcription	HepG2	liver
33	chr8:100163200-100197800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:100163400-100166200	Weak transcription	Small Intestine	intestine
35	chr8:100163400-100169200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:100163400-100169600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:100163400-100169600	Weak transcription	Fetal Kidney	kidney
38	chr8:100163400-100170600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:100163400-100171000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:100163400-100172600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:100163400-100173600	Weak transcription	K562	blood
42	chr8:100163400-100174200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:100163400-100174800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:100163400-100175400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr8:100163400-100178400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:100163400-100179400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr8:100163400-100179400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:100163400-100180200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:100163400-100180200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:100163400-100186400	Weak transcription	Rectal Smooth Muscle	rectum

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