Variant report

Variant	rs1814540
Chromosome Location	chr15:43759848-43759849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	15:43750262-43763629..15:43792489-43802874	K562	blood:
2	15:43750262-43763629..15:43802874-43806906	K562	blood:
3	15:43750262-43763629..15:44034348-44042259	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000167004	Chromatin interaction
ENSG00000205771	Chromatin interaction
ENSG00000067369	Chromatin interaction
ENSG00000166963	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs2245161	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2247734	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2249948	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2264048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2264051	1.00[EUR][1000 genomes]
rs2444031	1.00[EUR][1000 genomes]
rs2444248	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2447200	1.00[EUR][1000 genomes]
rs2447214	1.00[EUR][1000 genomes]
rs2470123	1.00[EUR][1000 genomes]
rs2601019	0.82[AFR][1000 genomes]
rs28370962	1.00[EUR][1000 genomes]
rs2930527	1.00[EUR][1000 genomes]
rs482124	1.00[EUR][1000 genomes]
rs492046	1.00[EUR][1000 genomes]
rs4924721	1.00[EUR][1000 genomes]
rs509037	1.00[EUR][1000 genomes]
rs509197	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs545430	1.00[EUR][1000 genomes]
rs555252	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs558010	1.00[EUR][1000 genomes]
rs559805	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56329224	1.00[EUR][1000 genomes]
rs573201	1.00[EUR][1000 genomes]
rs575304	1.00[EUR][1000 genomes]
rs59083674	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs656473	1.00[EUR][1000 genomes]
rs689735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs690262	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7173990	1.00[EUR][1000 genomes]
rs74009133	1.00[EUR][1000 genomes]
rs933942	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking 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 miRNA target site	101 gene(s)	inside rSNPs	diseases
3	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 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	chr15:43726400-43769600	Weak transcription	Fetal Heart	heart
2	chr15:43730600-43765600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:43730600-43766800	Weak transcription	Small Intestine	intestine
4	chr15:43731200-43761400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:43734200-43780000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:43734200-43780200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:43739600-43761600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr15:43741600-43774800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:43743600-43763400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr15:43743800-43766800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:43743800-43770400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:43743800-43773400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:43744000-43760800	Strong transcription	Fetal Intestine Small	intestine
14	chr15:43744000-43762600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:43744000-43770600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:43744000-43770600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr15:43744000-43773400	Strong transcription	Fetal Muscle Leg	muscle
18	chr15:43744000-43773600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:43744000-43783000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr15:43744000-43784000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:43744200-43760400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:43746400-43782800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:43746600-43773000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr15:43748000-43763400	Strong transcription	Dnd41	blood
25	chr15:43748800-43764800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr15:43749000-43760200	Weak transcription	Colonic Mucosa	Colon
27	chr15:43749000-43766800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr15:43749200-43765000	Weak transcription	Esophagus	oesophagus
29	chr15:43749200-43765000	Weak transcription	Gastric	stomach
30	chr15:43749200-43767200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr15:43749200-43769800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr15:43749200-43784600	Weak transcription	Stomach Mucosa	stomach
33	chr15:43749400-43762600	Weak transcription	Brain Substantia Nigra	brain
34	chr15:43749400-43762800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr15:43749400-43764200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr15:43749400-43766600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr15:43749400-43766600	Weak transcription	HepG2	liver
38	chr15:43749400-43783800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr15:43749400-43784400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr15:43750400-43762400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr15:43750800-43765200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr15:43751000-43765600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:43751000-43766000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr15:43751200-43760600	Weak transcription	K562	blood
45	chr15:43751400-43775600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr15:43751600-43760000	Weak transcription	Left Ventricle	heart
47	chr15:43752400-43772400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr15:43752600-43760400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr15:43752600-43765600	Weak transcription	Pancreas	Pancrea
50	chr15:43752600-43767400	Weak transcription	Fetal Brain Male	brain

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