Variant report

Variant	rs2041458
Chromosome Location	chr17:15860838-15860839
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:15860784..15862668-chr17:15867479..15869134,2	MCF-7	breast:
2	chr17:15856750..15859514-chr17:15860824..15862643,2	K562	blood:
3	chr17:15859179..15862826-chr17:15901862..15905162,4	MCF-7	breast:
4	chr17:15852422..15855230-chr17:15859382..15862010,2	MCF-7	breast:
5	chr17:15855716..15858528-chr17:15860406..15862714,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214941	Chromatin interaction
ENSG00000011295	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2535603	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2535604	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2535607	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2535608	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2535610	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2779192	1.00[EUR][1000 genomes]
rs2779193	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2779194	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2779195	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2779196	1.00[EUR][1000 genomes]
rs2779199	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2779200	1.00[ASN][1000 genomes]
rs2779201	1.00[ASN][1000 genomes]
rs2779203	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs758858	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8069362	1.00[TSI][hapmap]
rs859231	1.00[GIH][hapmap];0.82[MEX][hapmap]
rs859267	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv907709	chr17:15851196-15937487	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	nsv907708	chr17:15851196-15950751	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1057493	chr17:15852125-15930718	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv543215	chr17:15852125-15930718	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv907710	chr17:15854257-15950751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv960192	chr17:15856207-15867176	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15851000-15862200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:15851200-15861800	Weak transcription	NHLF	lung
3	chr17:15851200-15869600	Weak transcription	Gastric	stomach
4	chr17:15851400-15861800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr17:15852200-15861000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:15852200-15861800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr17:15852200-15861800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr17:15853400-15861800	Genic enhancers	NHEK	skin
9	chr17:15854800-15861000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr17:15855400-15861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:15855800-15869800	Weak transcription	Fetal Intestine Small	intestine
12	chr17:15856400-15861800	Enhancers	NHDF-Ad	bronchial
13	chr17:15857200-15866600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:15857800-15861800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr17:15858000-15861800	Weak transcription	Placenta	Placenta
16	chr17:15858000-15868200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr17:15858200-15861800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr17:15858800-15861800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr17:15859200-15861000	Enhancers	HSMM	muscle
20	chr17:15859200-15861800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:15859200-15862200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr17:15859200-15862200	Enhancers	A549	lung
23	chr17:15859200-15862200	Enhancers	Hela-S3	cervix
24	chr17:15859200-15862400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr17:15859200-15864000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr17:15859400-15861600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr17:15859400-15861800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:15859400-15862200	Enhancers	NH-A	brain
29	chr17:15859400-15862600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr17:15859600-15862200	Enhancers	HUVEC	blood vessel
31	chr17:15859600-15863600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:15859800-15861800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr17:15859800-15861800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr17:15859800-15861800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr17:15859800-15861800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:15859800-15861800	Weak transcription	HepG2	liver
37	chr17:15859800-15861800	Enhancers	K562	blood
38	chr17:15859800-15862000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr17:15860000-15861000	Enhancers	Esophagus	oesophagus
40	chr17:15860000-15861800	Weak transcription	Fetal Thymus	thymus
41	chr17:15860000-15862000	Weak transcription	HSMMtube	muscle
42	chr17:15860000-15868400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr17:15860200-15862000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr17:15860200-15862800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr17:15860400-15861000	Genic enhancers	HMEC	breast
46	chr17:15860400-15861200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr17:15860400-15861200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr17:15860400-15861800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr17:15860400-15861800	Enhancers	GM12878-XiMat	blood
50	chr17:15860600-15861000	Enhancers	Pancreas	Pancrea

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