Variant report

Variant	rs2535604
Chromosome Location	chr17:15854040-15854041
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:15852554..15854858-chr17:15872910..15875839,2	MCF-7	breast:
2	chr17:15852422..15855230-chr17:15859382..15862010,2	MCF-7	breast:
3	chr17:15848087..15850037-chr17:15852392..15854859,2	K562	blood:
4	chr17:15852982..15855895-chr17:15901108..15903001,2	K562	blood:

Variant related genes	Relation type
ENSG00000170425	Chromatin interaction
ENSG00000214941	Chromatin interaction
ENSG00000011295	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1102644	1.00[EUR][1000 genomes]
rs11868331	1.00[EUR][1000 genomes]
rs11868613	1.00[EUR][1000 genomes]
rs11869184	1.00[EUR][1000 genomes]
rs11872072	1.00[EUR][1000 genomes]
rs1622059	1.00[EUR][1000 genomes]
rs1622062	1.00[EUR][1000 genomes]
rs1797463	1.00[EUR][1000 genomes]
rs2041458	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2058366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2482988	1.00[EUR][1000 genomes]
rs2535600	1.00[EUR][1000 genomes]
rs2535602	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2535603	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2535607	1.00[ASN][1000 genomes]
rs2535608	1.00[ASN][1000 genomes]
rs2535610	1.00[ASN][1000 genomes]
rs2779190	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2779191	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2779192	0.92[ASN][1000 genomes]
rs2779193	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2779194	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.87[MKK][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2779195	1.00[CHD][hapmap];0.92[ASN][1000 genomes]
rs2779196	0.92[ASN][1000 genomes]
rs2779197	0.92[ASN][1000 genomes]
rs2779199	1.00[ASN][1000 genomes]
rs2779200	0.82[ASN][1000 genomes]
rs2779201	0.82[ASN][1000 genomes]
rs2779203	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3859259	1.00[EUR][1000 genomes]
rs4791645	1.00[EUR][1000 genomes]
rs4791646	1.00[EUR][1000 genomes]
rs4791651	1.00[EUR][1000 genomes]
rs4791654	1.00[EUR][1000 genomes]
rs4792695	1.00[EUR][1000 genomes]
rs4792696	1.00[EUR][1000 genomes]
rs4792697	1.00[EUR][1000 genomes]
rs4792698	1.00[EUR][1000 genomes]
rs484520	1.00[EUR][1000 genomes]
rs500752	1.00[EUR][1000 genomes]
rs513190	1.00[EUR][1000 genomes]
rs708592	1.00[EUR][1000 genomes]
rs7209188	1.00[EUR][1000 genomes]
rs7213464	0.92[ASN][1000 genomes]
rs757623	0.92[ASN][1000 genomes]
rs758854	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs758855	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs758856	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs758858	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8079191	1.00[EUR][1000 genomes]
rs859225	1.00[EUR][1000 genomes]
rs859231	1.00[EUR][1000 genomes]
rs859239	1.00[EUR][1000 genomes]
rs859241	1.00[EUR][1000 genomes]
rs859242	1.00[EUR][1000 genomes]
rs859244	1.00[EUR][1000 genomes]
rs859245	1.00[EUR][1000 genomes]
rs859249	1.00[EUR][1000 genomes]
rs859250	1.00[EUR][1000 genomes]
rs859251	1.00[EUR][1000 genomes]
rs859254	1.00[EUR][1000 genomes]
rs859258	1.00[EUR][1000 genomes]
rs859259	1.00[EUR][1000 genomes]
rs859260	1.00[EUR][1000 genomes]
rs859261	1.00[EUR][1000 genomes]
rs859262	1.00[EUR][1000 genomes]
rs859263	1.00[EUR][1000 genomes]
rs859264	1.00[EUR][1000 genomes]
rs859265	1.00[EUR][1000 genomes]
rs859266	1.00[EUR][1000 genomes]
rs859267	1.00[EUR][1000 genomes]
rs859268	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
15	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
16	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
17	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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15849600-15860600	Weak transcription	Pancreas	Pancrea
2	chr17:15850200-15854600	Weak transcription	Right Ventricle	heart
3	chr17:15850200-15859200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:15850200-15860600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:15850400-15856600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr17:15851000-15859600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr17:15851000-15862200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr17:15851200-15856000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr17:15851200-15856400	Weak transcription	NHDF-Ad	bronchial
10	chr17:15851200-15861800	Weak transcription	NHLF	lung
11	chr17:15851200-15869600	Weak transcription	Gastric	stomach
12	chr17:15851400-15855000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr17:15851400-15857000	Weak transcription	HSMM	muscle
14	chr17:15851400-15857000	Weak transcription	Osteobl	bone
15	chr17:15851400-15859400	Weak transcription	HSMMtube	muscle
16	chr17:15851400-15861800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr17:15851600-15854600	Weak transcription	Fetal Muscle Leg	muscle
18	chr17:15851600-15856400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:15852000-15854800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr17:15852000-15856200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr17:15852000-15857000	Weak transcription	NH-A	brain
22	chr17:15852000-15857400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr17:15852000-15859400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr17:15852000-15860400	Weak transcription	Lung	lung
25	chr17:15852200-15855200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr17:15852200-15855400	Weak transcription	K562	blood
27	chr17:15852200-15855600	Weak transcription	Stomach Mucosa	stomach
28	chr17:15852200-15857200	Weak transcription	Hela-S3	cervix
29	chr17:15852200-15858200	Weak transcription	HepG2	liver
30	chr17:15852200-15859200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:15852200-15860600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:15852200-15861000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr17:15852200-15861800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr17:15852200-15861800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr17:15852800-15859200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr17:15853000-15856400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr17:15853400-15854200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr17:15853400-15854600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr17:15853400-15855000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr17:15853400-15857800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr17:15853400-15861800	Genic enhancers	NHEK	skin
42	chr17:15853600-15854200	Strong transcription	Fetal Intestine Small	intestine
43	chr17:15853600-15854600	Genic enhancers	Placenta	Placenta
44	chr17:15853600-15855000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:15853600-15855000	Enhancers	Esophagus	oesophagus
46	chr17:15853600-15855000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr17:15853600-15856200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr17:15853600-15856200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr17:15853800-15854400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr17:15853800-15854800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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