Variant report

Variant	rs6494995
Chromosome Location	chr15:72516443-72516444
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:72514181-72517214	GM12892	blood:	n/a	n/a
2	POLR2A	chr15:72510600-72517250	U87	brain:	n/a	n/a
3	POLR2A	chr15:72516273-72517140	GM12891	blood:	n/a	n/a
4	POLR2A	chr15:72513970-72517229	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr15:72516296-72516828	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr15:72505274-72517371	U87	brain:	n/a	n/a
7	POLR2A	chr15:72516282-72516810	K562	blood:	n/a	n/a
8	POLR2A	chr15:72516322-72516827	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:72515359-72517200	GM12891	blood:	n/a	n/a
10	POLR2A	chr15:72515441-72516801	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr15:72516286-72516814	K562	blood:	n/a	n/a
12	POLR2A	chr15:72511065-72517077	GM12878	blood:	n/a	n/a
13	POLR2A	chr15:72516310-72516568	GM12878	blood:	n/a	n/a
14	POLR2A	chr15:72514319-72517118	GM12878	blood:	n/a	n/a
15	POLR2A	chr15:72507467-72517250	U87	brain:	n/a	n/a
16	POLR2A	chr15:72513968-72517235	HepG2	liver:	n/a	n/a
17	POLR2A	chr15:72514306-72517174	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:72510812-72517224	GM12891	blood:	n/a	n/a
19	POLR2A	chr15:72515336-72516702	HCT-116	colon:	n/a	n/a
20	POLR2A	chr15:72515374-72517213	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr15:72516278-72517272	HepG2	liver:	n/a	n/a
22	POLR2A	chr15:72516266-72516752	GM12892	blood:	n/a	n/a
23	POLR2A	chr15:72516302-72516829	HepG2	liver:	n/a	n/a
24	POLR2A	chr15:72516324-72516727	HCT-116	colon:	n/a	n/a
25	POLR2A	chr15:72516348-72517077	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr15:72514247-72517233	GM12891	blood:	n/a	n/a
27	POLR2A	chr15:72514117-72517134	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr15:72516344-72516561	A549	lung:	n/a	n/a
29	POLR2A	chr15:72516363-72516832	MCF-7	breast:	n/a	n/a
30	POLR2A	chr15:72516430-72516641	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr15:72515360-72517235	PFSK-1	brain:	n/a	n/a
32	WRNIP1	chr15:72514509-72517102	GM12878	blood:	n/a	n/a
33	POLR2A	chr15:72515712-72517066	K562	blood:	n/a	n/a
34	POLR2A	chr15:72515371-72517222	GM12891	blood:	n/a	n/a
35	POLR2A	chr15:72516271-72516647	GM12878	blood:	n/a	n/a
36	POLR2A	chr15:72515366-72517167	GM12892	blood:	n/a	n/a
37	POLR2A	chr15:72501810-72525301	U87	brain:	n/a	n/a
38	POLR2A	chr15:72514077-72517145	A549	lung:	n/a	n/a
39	POLR2A	chr15:72516090-72517099	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr15:72514196-72517101	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr15:72516287-72516815	HL-60	blood:	n/a	n/a
42	POLR2A	chr15:72514459-72517227	GM12892	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72476500..72479008-chr15:72515049..72516702,2	MCF-7	breast:
2	chr15:72490651..72493389-chr15:72515368..72517029,2	K562	blood:
3	chr15:72513653..72518363-chr15:72563063..72568184,5	MCF-7	breast:
4	chr15:72514333..72526693-chr15:72558323..72568559,52	MCF-7	breast:
5	chr15:72516353..72519087-chr15:72549538..72551864,2	MCF-7	breast:
6	chr15:72490651..72494473-chr15:72515368..72517645,3	K562	blood:

No data

Variant related genes	Relation type
PKM	TF binding region
ENSG00000137817	Chromatin interaction
ENSG00000067225	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10851849	1.00[EUR][1000 genomes]
rs11072348	0.85[YRI][hapmap];0.80[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	0.85[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1457030	0.85[YRI][hapmap];0.84[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	0.95[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	0.85[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	0.85[YRI][hapmap];0.84[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	1.00[EUR][1000 genomes]
rs4777487	0.81[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4777493	0.87[YRI][hapmap];0.99[AFR][1000 genomes];1.00[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	0.95[AFR][1000 genomes]
rs7170173	0.85[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7171097	0.87[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7173348	1.00[EUR][1000 genomes]
rs7173532	0.85[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7177512	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7179691	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7180934	0.85[YRI][hapmap];0.80[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	0.85[YRI][hapmap]
rs8034892	1.00[EUR][1000 genomes]
rs8037749	1.00[EUR][1000 genomes]
rs930871	0.85[YRI][hapmap];0.83[AMR][1000 genomes];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	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	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
3	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	chr15:72490600-72518000	Strong transcription	Dnd41	blood
2	chr15:72490800-72518400	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr15:72496600-72518800	Strong transcription	Fetal Stomach	stomach
4	chr15:72509200-72517200	Genic enhancers	HepG2	liver
5	chr15:72509400-72518800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:72511000-72517800	Genic enhancers	Muscle Satellite Cultured Cells	--
7	chr15:72511000-72519000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:72511000-72519000	Genic enhancers	HSMM	muscle
9	chr15:72511200-72517200	Genic enhancers	Fetal Muscle Leg	muscle
10	chr15:72511400-72521800	Weak transcription	Liver	Liver
11	chr15:72511600-72517800	Weak transcription	Brain Germinal Matrix	brain
12	chr15:72511600-72518000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:72511600-72519000	Weak transcription	Fetal Brain Male	brain
14	chr15:72511600-72519000	Weak transcription	Fetal Kidney	kidney
15	chr15:72511600-72519000	Weak transcription	Ovary	ovary
16	chr15:72511800-72517000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
17	chr15:72511800-72517200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr15:72511800-72517800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:72511800-72518200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr15:72512000-72517200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:72512200-72517200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr15:72512400-72518000	Genic enhancers	Primary monocytes fromperipheralblood	blood
23	chr15:72512600-72517200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:72512600-72519000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:72512600-72519200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr15:72513000-72516600	Genic enhancers	HSMMtube	muscle
27	chr15:72513000-72518400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr15:72513400-72519000	Weak transcription	Fetal Lung	lung
29	chr15:72513600-72516600	Enhancers	Brain Substantia Nigra	brain
30	chr15:72513600-72516800	Strong transcription	Primary B cells from cord blood	blood
31	chr15:72513600-72518200	Genic enhancers	Monocytes-CD14+_RO01746	blood
32	chr15:72513600-72519000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr15:72513800-72518400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr15:72513800-72518400	Weak transcription	Fetal Brain Female	brain
35	chr15:72514200-72517000	Genic enhancers	Primary T cells from cord blood	blood
36	chr15:72514200-72517000	Genic enhancers	NHDF-Ad	bronchial
37	chr15:72514200-72519000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr15:72514400-72517200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
39	chr15:72514400-72517200	Enhancers	Psoas Muscle	Psoas
40	chr15:72514400-72519600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
41	chr15:72514600-72516600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr15:72514600-72516600	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr15:72514600-72516800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:72514600-72516800	Enhancers	Brain Angular Gyrus	brain
45	chr15:72514600-72516800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr15:72514600-72516800	Enhancers	Esophagus	oesophagus
47	chr15:72514600-72516800	Genic enhancers	Placenta Amnion	Placenta Amnion
48	chr15:72514600-72516800	Transcr. at gene 5' and 3'	A549	lung
49	chr15:72514600-72516800	Genic enhancers	K562	blood
50	chr15:72514600-72517000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin

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