Variant report

Variant	rs55904487
Chromosome Location	chr15:40679107-40679108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40678561-40679896	K562	blood:	n/a	n/a
2	POLR2A	chr15:40678785-40679458	K562	blood:	n/a	n/a
3	POLR2A	chr15:40678876-40679292	HepG2	liver:	n/a	n/a
4	POLR2A	chr15:40678743-40679300	K562	blood:	n/a	n/a
5	POLR2A	chr15:40678948-40679152	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr15:40678903-40679162	K562	blood:	n/a	n/a
7	POLR2A	chr15:40678731-40679775	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr15:40679068-40679160	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr15:40678744-40679236	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr15:40678410-40680234	SK-N-MC	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40673781..40676898-chr15:40677538..40680971,3	K562	blood:
2	chr15:40613571..40616194-chr15:40676591..40679577,2	K562	blood:
3	chr15:40677201..40680509-chr15:40684256..40687941,4	K562	blood:
4	chr15:40673781..40676647-chr15:40677297..40679629,4	K562	blood:
5	chr15:40626383..40628344-chr15:40677759..40680121,2	K562	blood:

No data

Variant related genes	Relation type
KNSTRN	TF binding region
ENSG00000128944	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57094441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59636068	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60397708	1.00[AMR][1000 genomes]
rs7164303	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74011146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74011152	1.00[AMR][1000 genomes]
rs74011153	1.00[AMR][1000 genomes]
rs74013054	1.00[AMR][1000 genomes]
rs74013056	1.00[AMR][1000 genomes]
rs8040294	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8041445	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 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	chr15:40675800-40681200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:40676000-40689800	Weak transcription	Right Atrium	heart
3	chr15:40676000-40697400	Weak transcription	Small Intestine	intestine
4	chr15:40676200-40681800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:40676200-40685000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:40676200-40685200	Weak transcription	Colon Smooth Muscle	Colon
7	chr15:40676200-40687200	Weak transcription	Colonic Mucosa	Colon
8	chr15:40676200-40690400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:40676200-40697200	Weak transcription	Stomach Mucosa	stomach
10	chr15:40676400-40687200	Weak transcription	Right Ventricle	heart
11	chr15:40676800-40687200	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr15:40676800-40688000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:40676800-40688400	Strong transcription	Fetal Thymus	thymus
14	chr15:40677000-40680000	Strong transcription	A549	lung
15	chr15:40677000-40686800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr15:40677000-40688600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:40677200-40679800	Strong transcription	HSMM	muscle
18	chr15:40677200-40687400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr15:40677200-40687600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:40677200-40687600	Strong transcription	Fetal Stomach	stomach
21	chr15:40677400-40679800	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr15:40677400-40679800	Strong transcription	Fetal Brain Female	brain
23	chr15:40677400-40680000	Strong transcription	NHEK	skin
24	chr15:40677400-40680200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:40677400-40680600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr15:40677400-40681800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:40677400-40687000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr15:40677600-40679200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr15:40677600-40680000	Strong transcription	Dnd41	blood
30	chr15:40677600-40680000	Strong transcription	HUVEC	blood vessel
31	chr15:40677600-40680000	Strong transcription	NH-A	brain
32	chr15:40677600-40680800	Strong transcription	Osteobl	bone
33	chr15:40677600-40681000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:40677600-40686600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr15:40677600-40687000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr15:40677600-40687600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr15:40677800-40679800	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr15:40677800-40680400	Strong transcription	HSMMtube	muscle
39	chr15:40677800-40686400	Strong transcription	Hela-S3	cervix
40	chr15:40677800-40688800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:40678000-40680200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:40678000-40680200	Strong transcription	K562	blood
43	chr15:40678000-40687400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:40678200-40688400	Strong transcription	Fetal Muscle Leg	muscle
45	chr15:40678400-40679800	Strong transcription	HepG2	liver
46	chr15:40678400-40680200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr15:40678400-40684000	Strong transcription	GM12878-XiMat	blood
48	chr15:40678400-40687600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:40678600-40679400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:40678600-40679400	Strong transcription	Primary monocytes fromperipheralblood	blood

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