Variant report

Variant	rs2228101
Chromosome Location	chr17:15848637-15848638
allele	C/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	chr17:15848046..15849969-chr17:15901406..15903295,2	MCF-7	breast:
3	chr17:15732168..15733133-chr17:15847994..15848750,2	MCF-7	breast:
4	chr17:15848433..15851819-chr17:15861241..15867680,6	MCF-7	breast:
5	chr17:15846803..15850519-chr17:15901644..15904167,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011295	Chromatin interaction
ENSG00000214941	Chromatin interaction
ENSG00000227790	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12103931	1.00[EUR][1000 genomes]
rs58182068	1.00[EUR][1000 genomes]
rs58206797	1.00[EUR][1000 genomes]
rs58678411	1.00[EUR][1000 genomes]
rs59239162	1.00[EUR][1000 genomes]
rs59242320	1.00[EUR][1000 genomes]
rs59543390	1.00[EUR][1000 genomes]
rs59647552	1.00[EUR][1000 genomes]
rs59805617	1.00[EUR][1000 genomes]
rs60453431	1.00[EUR][1000 genomes]
rs60636875	1.00[EUR][1000 genomes]
rs60812331	1.00[EUR][1000 genomes]
rs60842225	1.00[EUR][1000 genomes]
rs61374610	1.00[EUR][1000 genomes]
rs61464947	1.00[EUR][1000 genomes]
rs61478648	1.00[EUR][1000 genomes]
rs7209874	1.00[EUR][1000 genomes]
rs7209920	1.00[EUR][1000 genomes]
rs7211406	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7213299	1.00[EUR][1000 genomes]
rs73274315	1.00[EUR][1000 genomes]
rs73274366	1.00[EUR][1000 genomes]
rs73274391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274394	1.00[EUR][1000 genomes]
rs73276038	1.00[EUR][1000 genomes]
rs73276041	1.00[EUR][1000 genomes]
rs73276049	1.00[EUR][1000 genomes]
rs73276056	1.00[EUR][1000 genomes]
rs73276059	1.00[EUR][1000 genomes]
rs73276065	1.00[EUR][1000 genomes]
rs73276071	1.00[EUR][1000 genomes]
rs73276077	1.00[EUR][1000 genomes]
rs73276080	1.00[EUR][1000 genomes]
rs73276085	1.00[EUR][1000 genomes]
rs73278155	1.00[EUR][1000 genomes]
rs73278190	1.00[EUR][1000 genomes]
rs73280217	1.00[EUR][1000 genomes]
rs73280221	1.00[EUR][1000 genomes]
rs73280227	1.00[EUR][1000 genomes]
rs73280233	1.00[EUR][1000 genomes]
rs73280237	1.00[EUR][1000 genomes]
rs73280240	1.00[EUR][1000 genomes]
rs73280256	1.00[EUR][1000 genomes]
rs8072652	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 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
14	esv3402966	chr17:15847052-15849600	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15846400-15850000	Weak transcription	Hela-S3	cervix
2	chr17:15847400-15849200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
3	chr17:15847400-15849200	Active TSS	Brain Hippocampus Middle	brain
4	chr17:15847400-15849400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr17:15847400-15849400	Active TSS	Rectal Smooth Muscle	rectum
6	chr17:15847600-15849200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:15847600-15849200	Flanking Bivalent TSS/Enh	Thymus	Thymus
8	chr17:15847600-15849400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr17:15847600-15849400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr17:15847600-15849400	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr17:15847600-15849400	Flanking Active TSS	Pancreas	Pancrea
12	chr17:15847600-15849600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr17:15847600-15849600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr17:15847600-15849600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr17:15847600-15849600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr17:15847600-15849600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr17:15847600-15849600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:15847600-15849600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr17:15847600-15849600	Active TSS	Colon Smooth Muscle	Colon
20	chr17:15847600-15849600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
21	chr17:15847600-15849800	Active TSS	HSMM	muscle
22	chr17:15847600-15850000	Enhancers	Fetal Heart	heart
23	chr17:15847600-15850000	Active TSS	NHLF	lung
24	chr17:15847600-15850200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr17:15847600-15850800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr17:15847800-15848800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:15847800-15848800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:15847800-15848800	Active TSS	Brain Substantia Nigra	brain
29	chr17:15847800-15848800	Bivalent/Poised TSS	Fetal Stomach	stomach
30	chr17:15847800-15848800	Active TSS	Right Ventricle	heart
31	chr17:15847800-15848800	Active TSS	A549	lung
32	chr17:15847800-15848800	Active TSS	Osteobl	bone
33	chr17:15847800-15849000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr17:15847800-15849000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr17:15847800-15849000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr17:15847800-15849000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
37	chr17:15847800-15849000	Active TSS	HSMMtube	muscle
38	chr17:15847800-15849200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
39	chr17:15847800-15849200	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr17:15847800-15849200	Active TSS	Aorta	Aorta
41	chr17:15847800-15849200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr17:15847800-15849400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:15847800-15849400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr17:15847800-15849400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr17:15847800-15849400	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr17:15847800-15849400	Active TSS	Placenta Amnion	Placenta Amnion
47	chr17:15847800-15849400	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr17:15847800-15849400	Active TSS	NHDF-Ad	bronchial
49	chr17:15847800-15849600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr17:15847800-15849600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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