Variant report

Variant	rs73274397
Chromosome Location	chr17:15849724-15849725
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:15845973..15849997-chr17:15902965..15906205,4	K562	blood:
2	chr17:15842605..15845101-chr17:15849558..15852028,2	K562	blood:
3	chr17:15848046..15849969-chr17:15901406..15903295,2	MCF-7	breast:
4	chr17:15848713..15850591-chr17:15862400..15865313,2	K562	blood:
5	chr17:15848433..15851819-chr17:15861241..15867680,6	MCF-7	breast:
6	chr17:15846803..15850519-chr17:15901644..15904167,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011295	Chromatin interaction
ENSG00000214941	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73274336	0.94[AFR][1000 genomes]
rs73274341	0.94[AFR][1000 genomes]
rs73274348	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
4	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
8	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
9	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
12	nsv1061987	chr17:15810017-15855135	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv907707	chr17:15846535-15950751	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15846400-15850000	Weak transcription	Hela-S3	cervix
2	chr17:15847600-15849800	Active TSS	HSMM	muscle
3	chr17:15847600-15850000	Enhancers	Fetal Heart	heart
4	chr17:15847600-15850000	Active TSS	NHLF	lung
5	chr17:15847600-15850200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr17:15847600-15850800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr17:15847800-15849800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr17:15847800-15849800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr17:15847800-15850000	Active TSS	Left Ventricle	heart
10	chr17:15847800-15850200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
11	chr17:15847800-15850200	Active TSS	Brain Cingulate Gyrus	brain
12	chr17:15848000-15850000	Active TSS	NHEK	skin
13	chr17:15848000-15851000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr17:15848200-15850000	Active TSS	Colonic Mucosa	Colon
15	chr17:15848200-15850000	Active TSS	HMEC	breast
16	chr17:15848400-15849800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:15848600-15849800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:15848600-15849800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
19	chr17:15848600-15849800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
20	chr17:15848600-15849800	Bivalent/Poised TSS	HepG2	liver
21	chr17:15848600-15850400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr17:15848600-15850400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
23	chr17:15848600-15850600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:15848600-15850600	Flanking Active TSS	HUVEC	blood vessel
25	chr17:15848600-15851000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr17:15848800-15849800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr17:15848800-15850000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:15848800-15850000	Bivalent Enhancer	Fetal Brain Male	brain
29	chr17:15848800-15850200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
30	chr17:15848800-15850600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr17:15849000-15849800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
32	chr17:15849000-15849800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
33	chr17:15849000-15849800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
34	chr17:15849000-15849800	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr17:15849000-15850000	Active TSS	Esophagus	oesophagus
36	chr17:15849000-15850200	Enhancers	Liver	Liver
37	chr17:15849000-15850200	Weak transcription	HSMMtube	muscle
38	chr17:15849000-15852000	Enhancers	Spleen	Spleen
39	chr17:15849200-15849800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr17:15849200-15850000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr17:15849200-15850600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:15849200-15850800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr17:15849200-15850800	Flanking Active TSS	Osteobl	bone
44	chr17:15849400-15849800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
45	chr17:15849400-15849800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr17:15849400-15849800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
47	chr17:15849400-15849800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
48	chr17:15849400-15849800	Enhancers	Brain Substantia Nigra	brain
49	chr17:15849400-15849800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr17:15849400-15849800	Flanking Active TSS	Rectal Smooth Muscle	rectum

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