Variant report

Variant	rs2264048
Chromosome Location	chr15:43766167-43766168
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43760610..43763780-chr15:43765222..43770259,5	K562	blood:

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

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

rs_ID	r²[population]
rs1814540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2245161	1.00[EUR][1000 genomes]
rs2247734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2249948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2264051	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2444031	1.00[EUR][1000 genomes]
rs2444248	1.00[EUR][1000 genomes]
rs2447200	1.00[EUR][1000 genomes]
rs2447214	1.00[EUR][1000 genomes]
rs2470123	1.00[EUR][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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs545430	1.00[EUR][1000 genomes]
rs555252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs558010	1.00[EUR][1000 genomes]
rs559805	1.00[EUR][1000 genomes]
rs56329224	1.00[EUR][1000 genomes]
rs567249	0.81[AFR][1000 genomes]
rs573201	1.00[EUR][1000 genomes]
rs575304	1.00[EUR][1000 genomes]
rs59083674	1.00[EUR][1000 genomes]
rs656473	1.00[EUR][1000 genomes]
rs689735	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs690262	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	chr15:43730600-43766800	Weak transcription	Small Intestine	intestine
3	chr15:43734200-43780000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:43734200-43780200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr15:43741600-43774800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:43743800-43766800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:43743800-43770400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr15:43743800-43773400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:43744000-43770600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:43744000-43770600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:43744000-43773400	Strong transcription	Fetal Muscle Leg	muscle
12	chr15:43744000-43773600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr15:43744000-43783000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr15:43744000-43784000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:43746400-43782800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr15:43746600-43773000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr15:43749000-43766800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr15:43749200-43767200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr15:43749200-43769800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr15:43749200-43784600	Weak transcription	Stomach Mucosa	stomach
21	chr15:43749400-43766600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:43749400-43766600	Weak transcription	HepG2	liver
23	chr15:43749400-43783800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:43749400-43784400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr15:43751400-43775600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr15:43752400-43772400	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr15:43752600-43767400	Weak transcription	Fetal Brain Male	brain
28	chr15:43752800-43775200	Strong transcription	Placenta	Placenta
29	chr15:43754400-43770600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:43757400-43770800	Strong transcription	Brain Anterior Caudate	brain
31	chr15:43757400-43773400	Strong transcription	Primary T cells from cord blood	blood
32	chr15:43757800-43773400	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr15:43757800-43773400	Strong transcription	Fetal Intestine Large	intestine
34	chr15:43758000-43767600	Weak transcription	NHEK	skin
35	chr15:43758000-43774800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr15:43758200-43773200	Strong transcription	Adipose Nuclei	Adipose
37	chr15:43758200-43773400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:43758400-43772400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr15:43758400-43773200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr15:43758400-43773400	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr15:43758600-43767400	Weak transcription	A549	lung
42	chr15:43758600-43775800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:43759000-43772600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr15:43759400-43773400	Strong transcription	Liver	Liver
45	chr15:43759600-43779800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:43759800-43772400	Strong transcription	HUVEC	blood vessel
47	chr15:43760400-43773400	Strong transcription	Fetal Lung	lung
48	chr15:43760400-43773400	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr15:43760400-43784600	Weak transcription	Psoas Muscle	Psoas
50	chr15:43760600-43769200	Strong transcription	Fetal Kidney	kidney

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