Variant report

Variant	rs371339291
Chromosome Location	chr15:45458655-45458656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:45456792-45459932	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr15:45458586-45459995	Hela-S3	cervix:	n/a	n/a
3	CREB1	chr15:45458622-45459982	HepG2	liver:	n/a	n/a
4	MAZ	chr15:45458538-45460756	IMR90	lung:	n/a	chr15:45459166-45459182 chr15:45460742-45460751
5	CCNT2	chr15:45458624-45459873	K562	blood:	n/a	n/a
6	HCFC1	chr15:45458524-45460283	Hela-S3	cervix:	n/a	n/a
7	TBP	chr15:45458641-45459913	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr15:45458618-45459807	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr15:45458631-45459959	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr15:45458600-45459858	GM12878	blood:	n/a	n/a
11	SIN3A	chr15:45458653-45459916	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr15:45458565-45459979	A549	lung:	n/a	chr15:45459166-45459182
13	POLR2A	chr15:45458555-45458915	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr15:45458626-45459924	GM12891	blood:	n/a	n/a
15	POLR2A	chr15:45458497-45459996	H1-hESC	embryonic stem cell:	n/a	n/a
16	STAT5A	chr15:45458543-45458895	GM12878	blood:	n/a	n/a
17	REST	chr15:45458638-45460070	H1-neurons	neurons:	n/a	chr15:45459193-45459203
18	POLR2A	chr15:45458571-45459938	GM12892	blood:	n/a	n/a
19	MTA3	chr15:45458551-45460161	GM12878	blood:	n/a	n/a
20	POLR2A	chr15:45458606-45459923	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr15:45458587-45459864	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr15:45458554-45459972	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr15:45458625-45459834	GM12878	blood:	n/a	n/a
24	POLR2A	chr15:45456690-45460622	HepG2	liver:	n/a	n/a
25	POLR2A	chr15:45458612-45459943	HUVEC	blood vessel:	n/a	n/a
26	HMGN3	chr15:45458623-45459889	K562	blood:	n/a	n/a
27	POLR2A	chr15:45457893-45460098	GM12878	blood:	n/a	n/a
28	FOSL2	chr15:45458467-45459929	HepG2	liver:	n/a	chr15:45459192-45459201 chr15:45459187-45459196
29	POLR2A	chr15:45458522-45459988	GM12892	blood:	n/a	n/a
30	POLR2A	chr15:45458260-45460034	K562	blood:	n/a	n/a
31	POLR2A	chr15:45458525-45460087	HepG2	liver:	n/a	n/a
32	POLR2A	chr15:45458508-45459986	GM12892	blood:	n/a	n/a
33	POLR2A	chr15:45458649-45459922	K562	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:45457899..45460285-chr15:45489261..45492223,4	MCF-7	breast:
2	chr15:45458146..45462463-chr15:45465556..45468797,6	MCF-7	breast:
3	chr15:45458222..45460718-chr15:45477355..45481212,4	K562	blood:
4	chr15:45456638..45458886-chr15:45696035..45698478,2	K562	blood:
5	chr15:45457275..45460718-chr15:45477484..45481344,4	K562	blood:
6	chr15:45457064..45458836-chr15:45462821..45464924,2	MCF-7	breast:
7	chr15:45449920..45453086-chr15:45456416..45459415,4	K562	blood:
8	chr15:45458639..45462602-chr15:45463163..45466877,10	K562	blood:
9	chr15:45457925..45460364-chr15:45492288..45495049,4	MCF-7	breast:
10	chr15:45457588..45459238-chr15:45747257..45749159,2	K562	blood:
11	chr15:45456567..45458793-chr15:45475778..45478216,2	MCF-7	breast:
12	chr15:45458639..45463256-chr15:45489443..45493548,9	K562	blood:
13	chr15:45457813..45459796-chr15:45472458..45474302,2	MCF-7	breast:
14	chr15:45457999..45463256-chr15:45488727..45493013,8	K562	blood:
15	chr15:45456315..45459130-chr15:45878271..45881206,2	K562	blood:
16	chr15:45457159..45458711-chr15:45469879..45471937,2	MCF-7	breast:
17	chr15:45457607..45459113-chr15:45748789..45750442,2	K562	blood:
18	chr15:45457736..45460170-chr15:45478587..45480947,2	MCF-7	breast:
19	chr15:45457610..45461525-chr15:45477333..45480560,5	MCF-7	breast:
20	chr15:45457346..45461990-chr15:45488766..45494297,11	MCF-7	breast:
21	chr15:45458064..45460777-chr15:45570184..45573179,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259519	TF binding region
ENSG00000259932	Chromatin interaction
ENSG00000259520	Chromatin interaction
ENSG00000171763	Chromatin interaction
ENSG00000260035	Chromatin interaction
ENSG00000104164	Chromatin interaction
ENSG00000138606	Chromatin interaction
ENSG00000260170	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv457124	chr15:45381998-45460422	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv569312	chr15:45381998-45460422	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
8	nsv518213	chr15:45421758-45464768	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv904187	chr15:45438537-45507738	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
11	esv3323980	chr15:45458085-45460633	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45455800-45458800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:45457200-45458800	Weak transcription	Gastric	stomach
3	chr15:45457400-45458800	Enhancers	Primary hematopoietic stem cells	blood
4	chr15:45457800-45458800	Enhancers	Spleen	Spleen
5	chr15:45458000-45459000	Flanking Active TSS	Dnd41	blood
6	chr15:45458000-45459200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:45458200-45458800	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr15:45458200-45458800	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr15:45458200-45459000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:45458200-45459200	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr15:45458200-45459400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr15:45458200-45459600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr15:45458400-45458800	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr15:45458400-45458800	Flanking Active TSS	Thymus	Thymus
15	chr15:45458400-45459000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr15:45458400-45459200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr15:45458400-45459800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr15:45458400-45459800	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr15:45458400-45459800	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr15:45458400-45459800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:45458400-45459800	Active TSS	Primary T cells from cord blood	blood
22	chr15:45458400-45459800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:45458400-45459800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:45458400-45460000	Active TSS	H1 Cell Line	embryonic stem cell
25	chr15:45458400-45460000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr15:45458400-45460200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:45458400-45460200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr15:45458600-45458800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:45458600-45458800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:45458600-45458800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:45458600-45458800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:45458600-45458800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr15:45458600-45458800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr15:45458600-45458800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:45458600-45458800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr15:45458600-45458800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr15:45458600-45458800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr15:45458600-45458800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr15:45458600-45458800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr15:45458600-45458800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr15:45458600-45458800	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr15:45458600-45458800	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr15:45458600-45458800	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr15:45458600-45458800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr15:45458600-45458800	Flanking Active TSS	Fetal Brain Male	brain
46	chr15:45458600-45458800	Flanking Active TSS	Fetal Brain Female	brain
47	chr15:45458600-45458800	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr15:45458600-45458800	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr15:45458600-45458800	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr15:45458600-45458800	Flanking Active TSS	Fetal Stomach	stomach

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