Variant report

Variant	rs7222910
Chromosome Location	chr17:19672844-19672845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs60693525	1.00[AFR][1000 genomes]
rs62636609	1.00[AFR][1000 genomes]
rs7221728	0.94[AFR][1000 genomes]
rs73295805	0.93[AFR][1000 genomes]
rs73295819	0.94[AFR][1000 genomes]
rs73295836	0.94[AFR][1000 genomes]
rs73295848	0.94[AFR][1000 genomes]
rs73295864	0.94[AFR][1000 genomes]
rs73295879	0.94[AFR][1000 genomes]
rs73295882	0.94[AFR][1000 genomes]
rs73312743	1.00[AFR][1000 genomes]
rs8073641	0.83[AFR][1000 genomes]
rs8078025	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv907866	chr17:19582533-19697976	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv907867	chr17:19603060-19697976	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1061489	chr17:19654704-19705026	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19657400-19673000	Weak transcription	HUVEC	blood vessel
2	chr17:19657400-19674000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr17:19660400-19673800	Weak transcription	Fetal Intestine Small	intestine
4	chr17:19664200-19674000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr17:19665800-19673800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr17:19666000-19676400	Weak transcription	Fetal Intestine Large	intestine
7	chr17:19666000-19676800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr17:19666000-19676800	Weak transcription	Fetal Lung	lung
9	chr17:19666000-19677000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr17:19666000-19678200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr17:19666000-19678600	Weak transcription	Left Ventricle	heart
12	chr17:19666000-19678800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr17:19666000-19679200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr17:19666000-19691200	Weak transcription	Spleen	Spleen
15	chr17:19666000-19691800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr17:19666200-19673400	Weak transcription	Fetal Brain Female	brain
17	chr17:19666200-19673600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:19666200-19676800	Weak transcription	Gastric	stomach
19	chr17:19666400-19673800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr17:19666400-19675200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr17:19669600-19674600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr17:19669600-19675000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr17:19669600-19675000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr17:19669600-19677800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr17:19670000-19673600	Weak transcription	Fetal Stomach	stomach
26	chr17:19670000-19675000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr17:19670200-19673000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:19670200-19673000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr17:19670200-19673000	Weak transcription	HSMM	muscle
30	chr17:19670200-19673600	Weak transcription	Brain Anterior Caudate	brain
31	chr17:19670200-19673800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr17:19670200-19673800	Weak transcription	Lung	lung
33	chr17:19670200-19673800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr17:19670200-19674600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr17:19670200-19674800	Weak transcription	Brain Substantia Nigra	brain
36	chr17:19670200-19674800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr17:19670200-19675200	Weak transcription	Right Atrium	heart
38	chr17:19670200-19677000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr17:19670200-19678400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr17:19670200-19679200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr17:19670200-19679400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr17:19670200-19694200	Weak transcription	Right Ventricle	heart
43	chr17:19670200-19699400	Weak transcription	Psoas Muscle	Psoas
44	chr17:19670400-19673000	Weak transcription	A549	lung
45	chr17:19670400-19673400	Weak transcription	Brain Hippocampus Middle	brain
46	chr17:19670400-19673600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr17:19670400-19673600	Weak transcription	Brain Angular Gyrus	brain
48	chr17:19670400-19675200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr17:19670400-19678200	Weak transcription	Placenta	Placenta
50	chr17:19670400-19679000	Weak transcription	Colon Smooth Muscle	Colon

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