Variant report

Variant	rs4608391
Chromosome Location	chr17:16924036-16924037
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16920777..16926602-chr17:16943525..16948995,8	MCF-7	breast:
2	chr17:16923260..16925095-chr17:16929732..16931336,2	MCF-7	breast:
3	chr17:16922009..16924326-chr17:16949178..16951661,2	MCF-7	breast:
4	chr17:16922760..16925384-chr17:16927836..16930121,3	K562	blood:
5	chr17:16921667..16924582-chr17:17139472..17141116,2	MCF-7	breast:
6	chr17:16922760..16926151-chr17:16927403..16930298,5	K562	blood:

Variant related genes	Relation type
ENSG00000154803	Chromatin interaction
ENSG00000133030	Chromatin interaction
ENSG00000264187	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11867934	0.82[ASN][1000 genomes]
rs4328504	0.88[ASN][1000 genomes]
rs56332804	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59100652	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8064771	0.93[ASN][1000 genomes]
rs8068857	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8069049	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8069441	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9908728	0.85[ASN][1000 genomes]
rs9909107	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv907727	chr17:16892265-16938582	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16917400-16926200	Enhancers	Stomach Mucosa	stomach
2	chr17:16918000-16926200	Enhancers	Placenta	Placenta
3	chr17:16918600-16924200	Weak transcription	Osteobl	bone
4	chr17:16918800-16924200	Enhancers	Hela-S3	cervix
5	chr17:16918800-16924200	Weak transcription	K562	blood
6	chr17:16918800-16930800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr17:16919000-16924200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr17:16919200-16924200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr17:16919200-16924200	Weak transcription	Small Intestine	intestine
10	chr17:16919800-16926200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:16920200-16926200	Enhancers	Pancreas	Pancrea
12	chr17:16921000-16924200	Enhancers	Lung	lung
13	chr17:16921000-16924400	Enhancers	Fetal Intestine Small	intestine
14	chr17:16921000-16926200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr17:16921200-16924200	Enhancers	Fetal Intestine Large	intestine
16	chr17:16921200-16925400	Enhancers	HMEC	breast
17	chr17:16921400-16924800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr17:16921800-16924200	Enhancers	A549	lung
19	chr17:16922200-16924400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr17:16922400-16924200	Weak transcription	Colonic Mucosa	Colon
21	chr17:16922400-16925400	Weak transcription	Spleen	Spleen
22	chr17:16922400-16928000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:16922600-16924200	Weak transcription	Fetal Lung	lung
24	chr17:16922600-16924400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr17:16922600-16925200	Weak transcription	Gastric	stomach
26	chr17:16922800-16928800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr17:16923400-16924200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:16923400-16925400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:16923600-16924200	Enhancers	HSMMtube	muscle
30	chr17:16923600-16926000	Enhancers	Right Ventricle	heart
31	chr17:16923600-16926800	Enhancers	Brain Anterior Caudate	brain
32	chr17:16923800-16924400	Enhancers	HSMM	muscle
33	chr17:16923800-16925400	Weak transcription	Esophagus	oesophagus
34	chr17:16923800-16928200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:16923800-16929000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr17:16923800-16929000	Weak transcription	NHEK	skin
37	chr17:16924000-16924200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr17:16924000-16924200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr17:16924000-16924400	Enhancers	HepG2	liver
40	chr17:16924000-16925400	Enhancers	Adipose Nuclei	Adipose
41	chr17:16924000-16926000	Enhancers	Right Atrium	heart
42	chr17:16924000-16926600	Enhancers	Placenta Amnion	Placenta Amnion

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