Variant report

Variant	rs57535550
Chromosome Location	chr15:55521569-55521570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55520811..55529435-chr15:55529925..55534726,12	K562	blood:
2	chr15:55520793..55522811-chr15:55524156..55526936,2	K562	blood:
3	chr15:55518640..55522590-chr15:55581375..55583917,4	K562	blood:
4	chr15:55519854..55522805-chr15:55537341..55539230,2	MCF-7	breast:
5	chr15:55520021..55524159-chr15:55571941..55574919,3	K562	blood:

Variant related genes	Relation type
ENSG00000069974	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12324775	0.95[AFR][1000 genomes]
rs28421759	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28581943	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4307894	0.80[AFR][1000 genomes]
rs55649971	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56117636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56244723	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57297946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57868158	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58143421	0.80[AFR][1000 genomes]
rs58387023	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58708905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59577009	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59829568	0.83[AMR][1000 genomes]
rs60713987	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61585844	0.83[AFR][1000 genomes]
rs6493773	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7172628	0.83[AFR][1000 genomes]
rs7173971	0.83[AFR][1000 genomes]
rs74015516	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015524	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015535	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015549	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8027540	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8038540	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043176	chr15:55010228-55563000	Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1039471	chr15:55137606-55552555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS 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	20 gene(s)	inside rSNPs	diseases
4	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv1049977	chr15:55502508-55555694	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55489800-55540200	Weak transcription	Esophagus	oesophagus
2	chr15:55490000-55529400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:55490000-55562800	Weak transcription	Ovary	ovary
4	chr15:55508600-55522600	Weak transcription	Colon Smooth Muscle	Colon
5	chr15:55509400-55541600	Weak transcription	Small Intestine	intestine
6	chr15:55510400-55522600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:55510400-55525000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr15:55510400-55528000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr15:55510600-55523800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:55512800-55541600	Weak transcription	Colonic Mucosa	Colon
11	chr15:55513400-55532400	Weak transcription	Left Ventricle	heart
12	chr15:55514200-55522000	Weak transcription	NH-A	brain
13	chr15:55514200-55522200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr15:55514200-55523000	Weak transcription	NHEK	skin
15	chr15:55514200-55532000	Weak transcription	Lung	lung
16	chr15:55514200-55532600	Weak transcription	Psoas Muscle	Psoas
17	chr15:55514200-55540400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:55514200-55545200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:55514400-55521800	Weak transcription	Fetal Brain Female	brain
20	chr15:55514400-55541200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:55514600-55522400	Weak transcription	HMEC	breast
22	chr15:55514600-55522600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:55514600-55534200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:55514600-55542600	Weak transcription	Hela-S3	cervix
25	chr15:55514600-55543200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:55514800-55522400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:55514800-55532600	Weak transcription	Adipose Nuclei	Adipose
28	chr15:55514800-55539800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr15:55514800-55560400	Weak transcription	Spleen	Spleen
30	chr15:55515200-55522200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr15:55515400-55526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:55516000-55524600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
33	chr15:55516000-55559600	Weak transcription	Fetal Stomach	stomach
34	chr15:55516200-55529400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:55517600-55521600	Strong transcription	K562	blood
36	chr15:55517600-55522400	Weak transcription	Pancreas	Pancrea
37	chr15:55517600-55542800	Weak transcription	Thymus	Thymus
38	chr15:55517800-55522000	Weak transcription	Stomach Mucosa	stomach
39	chr15:55517800-55522400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:55517800-55525600	Weak transcription	Primary T cells from cord blood	blood
41	chr15:55517800-55526600	Weak transcription	Fetal Intestine Small	intestine
42	chr15:55517800-55532400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr15:55517800-55539600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr15:55517800-55542200	Weak transcription	Fetal Thymus	thymus
45	chr15:55517800-55542800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr15:55518000-55521600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr15:55518000-55522200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr15:55518000-55522400	Weak transcription	NHLF	lung
49	chr15:55518000-55524000	Weak transcription	Fetal Muscle Leg	muscle
50	chr15:55518000-55539200	Weak transcription	Fetal Lung	lung

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