Variant report

Variant	rs2247734
Chromosome Location	chr15:43775778-43775779
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	15:43770785-43782117..15:43792489-43802874	Hela-S3	cervix:
2	15:43770785-43782117..15:44080886-44089111	Hela-S3	cervix:
3	chr15:43775217..43776099-chr15:43806529..43807298,2	MCF-7	breast:
4	chr15:43761184..43763590-chr15:43774247..43776021,2	K562	blood:

Variant related genes	Relation type
ENSG00000067369	Chromatin interaction
ENSG00000221792	Chromatin interaction
ENSG00000140264	Chromatin interaction
ENSG00000242028	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1814540	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2245161	1.00[GIH][hapmap];0.93[LWK][hapmap];0.93[AFR][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	0.89[AFR][1000 genomes]
rs28370962	1.00[EUR][1000 genomes]
rs2930527	1.00[EUR][1000 genomes]
rs482124	1.00[EUR][1000 genomes]
rs492046	0.94[YRI][hapmap];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	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs558010	1.00[EUR][1000 genomes]
rs559805	0.95[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	1.00[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	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7173990	1.00[ASW][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74009133	1.00[EUR][1000 genomes]
rs933942	1.00[EUR][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	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
4	nsv94676	chr15:43774977-43777774	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43734200-43780000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:43734200-43780200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:43744000-43783000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr15:43744000-43784000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:43746400-43782800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr15:43749200-43784600	Weak transcription	Stomach Mucosa	stomach
7	chr15:43749400-43783800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:43749400-43784400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:43758600-43775800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:43759600-43779800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:43760400-43784600	Weak transcription	Psoas Muscle	Psoas
12	chr15:43763400-43783800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:43764200-43777400	Strong transcription	Brain Germinal Matrix	brain
14	chr15:43764200-43784400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr15:43766400-43784000	Weak transcription	Spleen	Spleen
16	chr15:43766600-43778800	Strong transcription	NH-A	brain
17	chr15:43767000-43784400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:43767200-43783800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr15:43767800-43784400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr15:43767800-43784400	Weak transcription	Colonic Mucosa	Colon
21	chr15:43767800-43784400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr15:43769000-43784400	Weak transcription	Small Intestine	intestine
23	chr15:43770800-43779800	Weak transcription	Fetal Heart	heart
24	chr15:43771200-43779600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:43771200-43783800	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr15:43771400-43779600	Weak transcription	Right Ventricle	heart
27	chr15:43771800-43780600	Weak transcription	A549	lung
28	chr15:43771800-43783200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:43772000-43781400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr15:43772000-43784400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr15:43772000-43784400	Weak transcription	NHEK	skin
32	chr15:43772200-43776000	Weak transcription	Fetal Brain Male	brain
33	chr15:43772200-43780200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr15:43772200-43781200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr15:43772200-43783800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr15:43772400-43777800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr15:43772400-43778800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr15:43772400-43779400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr15:43772400-43779400	Weak transcription	HUVEC	blood vessel
40	chr15:43772400-43779800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr15:43772400-43779800	Weak transcription	Aorta	Aorta
42	chr15:43772400-43779800	Weak transcription	Left Ventricle	heart
43	chr15:43772400-43779800	Weak transcription	Thymus	Thymus
44	chr15:43772400-43780000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr15:43772400-43781400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr15:43772400-43784000	Weak transcription	Gastric	stomach
47	chr15:43772400-43784000	Weak transcription	GM12878-XiMat	blood
48	chr15:43772400-43784400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr15:43772400-43784600	Weak transcription	Pancreas	Pancrea
50	chr15:43772600-43778200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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