Variant report

Variant	rs7224153
Chromosome Location	chr17:20186229-20186230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs7208290	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7219613	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7220746	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7225948	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8081600	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv428669	chr17:20071969-20245033	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1064854	chr17:20086562-20225751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv2761953	chr17:20086562-20225763	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1063833	chr17:20088333-20206601	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv574581	chr17:20088492-20699545	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
12	nsv1062124	chr17:20139384-20206601	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv543261	chr17:20139384-20206601	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv1065758	chr17:20141912-20464366	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
15	nsv543262	chr17:20141912-20464366	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv1057389	chr17:20158343-20256498	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv427993	chr17:20171398-20482061	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
18	nsv916440	chr17:20171468-20839266	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
19	nsv520772	chr17:20184501-20522444	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20136400-20209800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:20151600-20190000	Weak transcription	Colonic Mucosa	Colon
3	chr17:20162000-20187600	Weak transcription	Pancreas	Pancrea
4	chr17:20164000-20200200	Weak transcription	Fetal Intestine Large	intestine
5	chr17:20164000-20205600	Weak transcription	Esophagus	oesophagus
6	chr17:20164200-20200200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr17:20164400-20202200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr17:20164600-20203800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr17:20164600-20204000	Weak transcription	Gastric	stomach
10	chr17:20166600-20187400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr17:20167400-20187600	Weak transcription	A549	lung
12	chr17:20167400-20200200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr17:20170400-20209600	Weak transcription	HMEC	breast
14	chr17:20171200-20200200	Weak transcription	Lung	lung
15	chr17:20171400-20187400	Weak transcription	HSMM	muscle
16	chr17:20171400-20187800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr17:20173400-20187600	Weak transcription	Aorta	Aorta
18	chr17:20173400-20197600	Weak transcription	Brain Germinal Matrix	brain
19	chr17:20174400-20200200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr17:20174800-20188400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr17:20175000-20187800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr17:20175000-20200200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr17:20179000-20186600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr17:20179200-20186400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr17:20180400-20200200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr17:20180400-20203400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:20180600-20187600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr17:20180600-20203200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr17:20180800-20187600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr17:20181200-20200400	Weak transcription	Adipose Nuclei	Adipose
31	chr17:20181400-20187600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:20181400-20200400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr17:20181400-20200400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr17:20182000-20203000	Weak transcription	NH-A	brain
35	chr17:20182400-20192600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr17:20182400-20200400	Weak transcription	Osteobl	bone
37	chr17:20182600-20187600	Weak transcription	HSMMtube	muscle
38	chr17:20182600-20187800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr17:20182800-20187600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:20183400-20187200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr17:20183800-20190800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr17:20184000-20200200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr17:20184200-20187800	Weak transcription	Hela-S3	cervix
44	chr17:20184600-20188400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr17:20184600-20188800	Enhancers	Brain Hippocampus Middle	brain
46	chr17:20184800-20186400	Enhancers	Fetal Muscle Leg	muscle
47	chr17:20184800-20186600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:20184800-20196000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr17:20184800-20200400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr17:20185000-20200200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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