Variant report

Variant	rs4777493
Chromosome Location	chr15:72504217-72504218
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:72503629-72505268	U87	brain:	n/a	n/a
2	POLR2A	chr15:72503838-72504358	HL-60	blood:	n/a	n/a
3	POLR2A	chr15:72504207-72504601	HepG2	liver:	n/a	n/a
4	POLR2A	chr15:72503712-72504408	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr15:72503769-72504398	A549	lung:	n/a	n/a
6	POLR2A	chr15:72503871-72504468	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr15:72504159-72504347	MCF-7	breast:	n/a	n/a
8	POLR2A	chr15:72503687-72504496	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr15:72503971-72504259	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:72501829-72505454	HepG2	liver:	n/a	n/a
11	POLR2A	chr15:72504160-72504468	GM12878	blood:	n/a	n/a
12	POLR2A	chr15:72501810-72505237	U87	brain:	n/a	n/a
13	POLR2A	chr15:72503611-72504475	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr15:72503629-72505181	U87	brain:	n/a	n/a
15	POLR2A	chr15:72503702-72504522	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr15:72503666-72505119	GM12891	blood:	n/a	n/a
17	POLR2A	chr15:72503776-72504233	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr15:72501810-72525301	U87	brain:	n/a	n/a
19	POLR2A	chr15:72503893-72504536	K562	blood:	n/a	n/a
20	POLR2A	chr15:72503670-72504416	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72502911..72505667-chr15:72507243..72510993,3	MCF-7	breast:
2	chr15:72503871..72506104-chr15:72519386..72521309,2	K562	blood:
3	chr15:72502909..72504752-chr15:72511808..72513368,2	K562	blood:

No data

Variant related genes	Relation type
PKM	TF binding region
ENSG00000067225	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10851849	1.00[EUR][1000 genomes]
rs11072348	0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11072352	1.00[EUR][1000 genomes]
rs12593333	1.00[EUR][1000 genomes]
rs12903688	0.90[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1457030	0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1598714	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1800431	1.00[EUR][1000 genomes]
rs2415131	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2856926	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2912208	1.00[EUR][1000 genomes]
rs2912209	1.00[EUR][1000 genomes]
rs2912211	1.00[EUR][1000 genomes]
rs2912212	1.00[EUR][1000 genomes]
rs2912213	1.00[EUR][1000 genomes]
rs2912218	1.00[EUR][1000 genomes]
rs2912232	1.00[EUR][1000 genomes]
rs2925647	1.00[EUR][1000 genomes]
rs2925651	1.00[EUR][1000 genomes]
rs2929516	1.00[EUR][1000 genomes]
rs2929520	1.00[EUR][1000 genomes]
rs2929523	1.00[EUR][1000 genomes]
rs2957367	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2957370	1.00[EUR][1000 genomes]
rs2957371	1.00[EUR][1000 genomes]
rs2957722	1.00[EUR][1000 genomes]
rs2957749	0.90[YRI][hapmap]
rs2959901	1.00[EUR][1000 genomes]
rs2959902	1.00[EUR][1000 genomes]
rs2959905	1.00[EUR][1000 genomes]
rs2959907	1.00[EUR][1000 genomes]
rs2959920	1.00[EUR][1000 genomes]
rs2959928	1.00[EUR][1000 genomes]
rs2959934	1.00[EUR][1000 genomes]
rs2959936	1.00[EUR][1000 genomes]
rs2959937	1.00[EUR][1000 genomes]
rs2959942	1.00[EUR][1000 genomes]
rs35293819	1.00[EUR][1000 genomes]
rs35514603	1.00[EUR][1000 genomes]
rs4238451	0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4265763	1.00[EUR][1000 genomes]
rs4461029	1.00[EUR][1000 genomes]
rs4776587	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4776588	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs4777487	0.86[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4777502	1.00[EUR][1000 genomes]
rs56168468	1.00[EUR][1000 genomes]
rs6494987	0.83[AMR][1000 genomes]
rs6494988	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6494989	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6494991	0.83[AMR][1000 genomes]
rs6494993	0.97[AFR][1000 genomes]
rs6494995	0.87[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7170173	0.90[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7171097	0.84[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7173348	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs7173532	0.90[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7177512	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7179691	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7180934	0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031658	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8032957	0.90[YRI][hapmap]
rs8034892	1.00[EUR][1000 genomes]
rs8037749	1.00[EUR][1000 genomes]
rs930871	0.90[YRI][hapmap];0.83[AMR][1000 genomes];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	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv833051	chr15:72315471-72508429	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72490000-72507600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:72490400-72512000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr15:72490600-72508200	Strong transcription	Primary T helper cells PMA-I stimulated	--
4	chr15:72490600-72512000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr15:72490600-72513000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr15:72490600-72513200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr15:72490600-72513600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:72490600-72513800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:72490600-72515600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:72490600-72518000	Strong transcription	Dnd41	blood
11	chr15:72490800-72504400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:72490800-72504400	Strong transcription	Colonic Mucosa	Colon
13	chr15:72490800-72511800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr15:72490800-72511800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr15:72490800-72511800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr15:72490800-72512200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr15:72490800-72513000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr15:72490800-72513000	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr15:72490800-72514200	Strong transcription	Primary T cells from cord blood	blood
20	chr15:72490800-72514400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr15:72490800-72518400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr15:72491000-72504800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:72491000-72504800	Strong transcription	Aorta	Aorta
24	chr15:72491000-72511600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:72491000-72512200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:72491000-72512200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr15:72491000-72512600	Strong transcription	Primary hematopoietic stem cells	blood
28	chr15:72491000-72512600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr15:72491000-72513000	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr15:72491000-72513400	Strong transcription	Fetal Lung	lung
31	chr15:72491000-72513600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr15:72491000-72513600	Strong transcription	Placenta Amnion	Placenta Amnion
33	chr15:72491000-72513800	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr15:72491000-72513800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr15:72491000-72514600	Strong transcription	K562	blood
36	chr15:72491200-72512000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:72491200-72512000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr15:72491200-72512800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr15:72491200-72513000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:72491400-72511600	Strong transcription	Ovary	ovary
41	chr15:72491400-72512400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr15:72491600-72511200	Strong transcription	GM12878-XiMat	blood
43	chr15:72491600-72511800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr15:72491600-72513600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:72491800-72511600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr15:72491800-72513200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:72492200-72514000	Strong transcription	Placenta	Placenta
48	chr15:72492200-72514200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr15:72492400-72511800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr15:72492400-72513800	Strong transcription	Rectal Mucosa Donor 31	rectum

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