Variant report

Variant	rs28831144
Chromosome Location	chr17:20173184-20173185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20170600..20173338-chr17:20176185..20177778,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11868146	0.85[EUR][1000 genomes]
rs11870578	0.85[EUR][1000 genomes]
rs58664968	0.99[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs60496867	0.87[EUR][1000 genomes]
rs7209889	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7223984	0.85[EUR][1000 genomes]
rs73981864	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs73981899	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs8066705	0.85[EUR][1000 genomes]
rs8074791	0.85[EUR][1000 genomes]
rs8078442	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9892080	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9899251	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9913312	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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

No data

Chromatin state (count:99 , 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	chr17:20152800-20176200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:20161800-20180200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:20162000-20174600	Weak transcription	Thymus	Thymus
6	chr17:20162000-20176600	Weak transcription	Fetal Brain Male	brain
7	chr17:20162000-20187600	Weak transcription	Pancreas	Pancrea
8	chr17:20164000-20200200	Weak transcription	Fetal Intestine Large	intestine
9	chr17:20164000-20205600	Weak transcription	Esophagus	oesophagus
10	chr17:20164200-20176200	Weak transcription	Fetal Brain Female	brain
11	chr17:20164200-20200200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr17:20164400-20202200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr17:20164600-20203800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr17:20164600-20204000	Weak transcription	Gastric	stomach
15	chr17:20165000-20173600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr17:20165000-20182000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr17:20165600-20177200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr17:20165800-20180400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr17:20166000-20185000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr17:20166200-20174400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr17:20166600-20174000	Enhancers	Primary T cells from cord blood	blood
22	chr17:20166600-20187400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr17:20167200-20183200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr17:20167400-20174600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr17:20167400-20187600	Weak transcription	A549	lung
26	chr17:20167400-20200200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr17:20167600-20173800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr17:20168000-20177000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr17:20168200-20182000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr17:20168200-20182400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr17:20168400-20176400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr17:20169000-20174000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr17:20170000-20175000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr17:20170000-20182000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr17:20170200-20173200	Enhancers	Fetal Muscle Trunk	muscle
36	chr17:20170200-20173600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr17:20170200-20174600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr17:20170200-20174600	Enhancers	Brain Angular Gyrus	brain
39	chr17:20170400-20209600	Weak transcription	HMEC	breast
40	chr17:20170600-20173400	Enhancers	Brain Anterior Caudate	brain
41	chr17:20170600-20173400	Enhancers	Brain Cingulate Gyrus	brain
42	chr17:20170600-20173600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr17:20170600-20173600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr17:20170600-20174400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:20170600-20176200	Weak transcription	Fetal Intestine Small	intestine
46	chr17:20170600-20179600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr17:20170800-20175800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr17:20170800-20177400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr17:20171000-20173200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr17:20171000-20174000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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