Variant report

Variant	rs482124
Chromosome Location	chr15:44094503-44094504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:44090434-44094516	GM12891	blood:	n/a	n/a
2	POLR2A	chr15:44094173-44094516	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:44086989-44094589	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr15:44083584-44094591	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr15:44094056-44094893	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr15:44094439-44094957	K562	blood:	n/a	n/a
7	POLR2A	chr15:44093696-44094512	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr15:44090572-44094627	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr15:44094183-44096675	HepG2	liver:	n/a	n/a
10	POLR2A	chr15:44092131-44094819	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr15:44094169-44094598	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr15:44094067-44094738	GM12878	blood:	n/a	n/a
13	POLR2A	chr15:44090499-44094679	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr15:44093731-44094572	MCF-7	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:44082965..44094882-chr15:44108427..44121402,26	K562	blood:
2	chr15:44038459..44040423-chr15:44094160..44095804,2	K562	blood:
3	chr15:44089939..44094924-chr15:44115270..44119372,7	MCF-7	breast:
4	chr15:44089858..44095024-chr15:44113933..44120718,10	MCF-7	breast:
5	chr15:44062113..44074982-chr15:44088756..44097846,29	MCF-7	breast:

No data

Variant related genes	Relation type
SERINC4	TF binding region
ENSG00000262560	TF binding region
ENSG00000128886	Chromatin interaction
ENSG00000167004	Chromatin interaction
ENSG00000205771	Chromatin interaction
ENSG00000140259	Chromatin interaction
ENSG00000092470	Chromatin interaction
ENSG00000140264	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1814540	1.00[EUR][1000 genomes]
rs2245161	1.00[EUR][1000 genomes]
rs2247734	1.00[EUR][1000 genomes]
rs2264048	1.00[EUR][1000 genomes]
rs2264051	1.00[EUR][1000 genomes]
rs2444031	1.00[EUR][1000 genomes]
rs2447200	1.00[EUR][1000 genomes]
rs2447214	1.00[EUR][1000 genomes]
rs2470123	1.00[EUR][1000 genomes]
rs28537381	1.00[EUR][1000 genomes]
rs2929276	1.00[EUR][1000 genomes]
rs2930527	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2930532	1.00[EUR][1000 genomes]
rs2930534	1.00[EUR][1000 genomes]
rs35093130	1.00[EUR][1000 genomes]
rs475758	1.00[EUR][1000 genomes]
rs483165	1.00[EUR][1000 genomes]
rs4924721	1.00[EUR][1000 genomes]
rs494774	1.00[EUR][1000 genomes]
rs555252	1.00[EUR][1000 genomes]
rs559805	1.00[EUR][1000 genomes]
rs56329224	1.00[EUR][1000 genomes]
rs59083674	1.00[EUR][1000 genomes]
rs612258	1.00[EUR][1000 genomes]
rs656473	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs689735	1.00[EUR][1000 genomes]
rs7171948	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
9	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
10	nsv1036318	chr15:44053617-44160773	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv1050263	chr15:44093927-44204047	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44093600-44097000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:44093600-44097000	Weak transcription	Aorta	Aorta
3	chr15:44093600-44097000	Weak transcription	Gastric	stomach
4	chr15:44093600-44098200	Weak transcription	Small Intestine	intestine
5	chr15:44093600-44103400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:44093600-44116000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:44093600-44116400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr15:44093800-44094600	Weak transcription	Ovary	ovary
9	chr15:44093800-44096600	Weak transcription	Brain Angular Gyrus	brain
10	chr15:44093800-44105400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:44093800-44107000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:44093800-44109000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:44093800-44112800	Strong transcription	Thymus	Thymus
14	chr15:44093800-44113800	Weak transcription	Stomach Mucosa	stomach
15	chr15:44093800-44115800	Weak transcription	Right Atrium	heart
16	chr15:44094000-44094600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:44094000-44094600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr15:44094000-44094600	Genic enhancers	NH-A	brain
19	chr15:44094000-44094600	Genic enhancers	Osteobl	bone
20	chr15:44094000-44095000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:44094000-44095000	Weak transcription	Spleen	Spleen
22	chr15:44094000-44095200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr15:44094000-44095200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr15:44094000-44095400	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr15:44094000-44095400	Strong transcription	Brain Substantia Nigra	brain
26	chr15:44094000-44095600	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr15:44094000-44096000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr15:44094000-44096000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr15:44094000-44096200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr15:44094000-44096400	Weak transcription	Primary B cells from cord blood	blood
31	chr15:44094000-44096400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr15:44094000-44096400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:44094000-44096400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr15:44094000-44096400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:44094000-44096400	Weak transcription	Colon Smooth Muscle	Colon
36	chr15:44094000-44096400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr15:44094000-44096400	Weak transcription	Fetal Brain Male	brain
38	chr15:44094000-44096400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr15:44094000-44096400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr15:44094000-44096400	Weak transcription	NHLF	lung
41	chr15:44094000-44096600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr15:44094000-44096800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr15:44094000-44097000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr15:44094000-44097000	Weak transcription	Colonic Mucosa	Colon
45	chr15:44094000-44097000	Weak transcription	Left Ventricle	heart
46	chr15:44094000-44097000	Weak transcription	Right Ventricle	heart
47	chr15:44094000-44097200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr15:44094000-44097200	Weak transcription	Esophagus	oesophagus
49	chr15:44094000-44097200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr15:44094000-44097200	Weak transcription	Psoas Muscle	Psoas

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