Variant report

Variant	rs34752949
Chromosome Location	chr15:59423327-59423328
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59406804..59410339-chr15:59423052..59425717,4	K562	blood:

Variant related genes	Relation type
ENSG00000157456	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12900331	0.90[ASN][1000 genomes]
rs1486878	0.93[ASN][1000 genomes]
rs1809588	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2414619	0.81[ASN][1000 genomes]
rs4218	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4482214	0.82[ASN][1000 genomes]
rs755786	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1035868	chr15:59402426-59530594	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59397800-59450000	Weak transcription	Small Intestine	intestine
2	chr15:59398000-59423400	Weak transcription	Esophagus	oesophagus
3	chr15:59398000-59425600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:59398000-59426000	Weak transcription	Lung	lung
5	chr15:59398000-59426200	Weak transcription	HSMMtube	muscle
6	chr15:59398000-59426400	Weak transcription	Left Ventricle	heart
7	chr15:59398000-59427200	Weak transcription	Pancreas	Pancrea
8	chr15:59398000-59427400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr15:59398000-59462000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:59398200-59423800	Weak transcription	Fetal Brain Male	brain
11	chr15:59399600-59437000	Strong transcription	Fetal Thymus	thymus
12	chr15:59401200-59439800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr15:59405800-59426000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:59409600-59438600	Weak transcription	Primary T cells from cord blood	blood
15	chr15:59410600-59426600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr15:59410800-59425800	Weak transcription	Placenta	Placenta
17	chr15:59413400-59423800	Weak transcription	NH-A	brain
18	chr15:59413400-59427600	Weak transcription	Fetal Heart	heart
19	chr15:59414600-59426000	Weak transcription	Gastric	stomach
20	chr15:59416400-59423400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:59416400-59423800	Weak transcription	Osteobl	bone
22	chr15:59417000-59423600	Weak transcription	HMEC	breast
23	chr15:59417200-59423400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr15:59417200-59423400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr15:59417400-59423600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr15:59417800-59423400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr15:59417800-59423600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr15:59417800-59423800	Weak transcription	NHEK	skin
29	chr15:59418000-59423400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:59418200-59423400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:59418200-59425200	Weak transcription	HUVEC	blood vessel
32	chr15:59418600-59424400	Weak transcription	Fetal Brain Female	brain
33	chr15:59421000-59437600	Strong transcription	Dnd41	blood
34	chr15:59421200-59424000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr15:59421400-59423800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:59421400-59433600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:59421400-59453400	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr15:59421600-59423400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr15:59421800-59423400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr15:59421800-59432200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:59421800-59433200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:59422000-59426200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr15:59422000-59430400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr15:59422200-59424400	Strong transcription	NHLF	lung
45	chr15:59422200-59438800	Strong transcription	Thymus	Thymus
46	chr15:59422200-59451200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr15:59422400-59424800	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr15:59422400-59425000	Weak transcription	Brain Germinal Matrix	brain
49	chr15:59422600-59424000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr15:59422600-59424000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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