Variant report

Variant	rs532152628
Chromosome Location	chr15:41785419-41785420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr15:41785103-41788925	K562	blood:	n/a	n/a
2	POLR2A	chr15:41784933-41789149	HepG2	liver:	n/a	n/a
3	IRF1	chr15:41785297-41785994	K562	blood:	n/a	chr15:41785493-41785502 chr15:41785458-41785472
4	POLR2A	chr15:41785155-41785997	IMR90	lung:	n/a	n/a
5	POLR2A	chr15:41785261-41785741	HepG2	liver:	n/a	n/a
6	E2F6	chr15:41785262-41787290	K562	blood:	n/a	chr15:41786107-41786117 chr15:41785457-41785467 chr15:41785462-41785471 chr15:41785890-41785902 chr15:41787003-41787012
7	ELK1	chr15:41785267-41785452	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:41785217-41786273	K562	blood:	n/a	n/a
9	ELF1	chr15:41785199-41786192	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:41785206-41786014	HepG2	liver:	n/a	n/a
11	ELF1	chr15:41785298-41786159	GM12878	blood:	n/a	n/a
12	POLR2A	chr15:41785163-41786256	K562	blood:	n/a	n/a
13	ELF1	chr15:41785293-41785726	K562	blood:	n/a	n/a
14	MYC	chr15:41784926-41787164	K562	blood:	n/a	chr15:41787148-41787158 chr15:41787004-41787014 chr15:41787041-41787050 chr15:41785812-41785822
15	MAX	chr15:41785320-41786837	HepG2	liver:	n/a	chr15:41785812-41785822
16	POLR2A	chr15:41785193-41786284	K562	blood:	n/a	n/a
17	TBL1XR1	chr15:41785381-41786070	K562	blood:	n/a	n/a
18	RUNX3	chr15:41785253-41785721	GM12878	blood:	n/a	n/a
19	MYBL2	chr15:41785017-41785983	HepG2	liver:	n/a	n/a
20	PML	chr15:41785150-41786168	K562	blood:	n/a	chr15:41785920-41785928 chr15:41785956-41785964
21	TAF1	chr15:41785212-41786123	ECC-1	luminal epithelium:	n/a	n/a
22	ZBTB7A	chr15:41785395-41788440	K562	blood:	n/a	n/a
23	HMGN3	chr15:41785274-41787174	K562	blood:	n/a	n/a
24	RCOR1	chr15:41784943-41786126	K562	blood:	n/a	n/a
25	CHD1	chr15:41785263-41785463	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:41785067-41789397	HepG2	liver:	n/a	n/a
27	POLR2A	chr15:41785246-41786103	GM12878	blood:	n/a	n/a
28	POLR2A	chr15:41785317-41786143	GM18526	blood:	n/a	n/a
29	POLR2A	chr15:41784942-41786134	SK-N-MC	brain:	n/a	n/a
30	STAT5A	chr15:41785419-41786122	GM12878	blood:	n/a	chr15:41785650-41785661
31	POLR2A	chr15:41785085-41786229	HepG2	liver:	n/a	n/a
32	ELF1	chr15:41785303-41785590	HepG2	liver:	n/a	n/a
33	MAZ	chr15:41784927-41786443	GM12878	blood:	n/a	chr15:41785812-41785822
34	MAX	chr15:41785389-41786027	Hela-S3	cervix:	n/a	chr15:41785812-41785822
35	ELF1	chr15:41785291-41785737	HepG2	liver:	n/a	n/a
36	POLR2A	chr15:41785328-41786339	HEK293	kidney:	n/a	n/a
37	UBTF	chr15:41784963-41788736	K562	blood:	n/a	n/a
38	SP1	chr15:41785163-41786126	HepG2	liver:	n/a	chr15:41785812-41785826 chr15:41785811-41785823 chr15:41785566-41785575 chr15:41785461-41785471 chr15:41785460-41785472 chr15:41785461-41785470 chr15:41785461-41785470 chr15:41785462-41785471 chr15:41785461-41785471 chr15:41785812-41785822 chr15:41785461-41785475 chr15:41785811-41785823 chr15:41785460-41785472
39	POLR2A	chr15:41785191-41786910	HepG2	liver:	n/a	n/a
40	MAX	chr15:41784891-41788790	K562	blood:	n/a	chr15:41787148-41787158 chr15:41787756-41787766 chr15:41788477-41788486 chr15:41787004-41787014 chr15:41787041-41787050 chr15:41788475-41788485 chr15:41785812-41785822 chr15:41787550-41787560 chr15:41787156-41787165 chr15:41788476-41788483
41	POLR2A	chr15:41785288-41785994	Hela-S3	cervix:	n/a	n/a
42	MAX	chr15:41785166-41786107	A549	lung:	n/a	chr15:41785812-41785822
43	ZBTB7A	chr15:41785362-41786235	ECC-1	luminal epithelium:	n/a	n/a
44	TBP	chr15:41785020-41786144	HepG2	liver:	n/a	n/a
45	MAZ	chr15:41784942-41788504	K562	blood:	n/a	chr15:41787148-41787158 chr15:41787756-41787766 chr15:41788477-41788486 chr15:41787004-41787014 chr15:41787041-41787050 chr15:41788475-41788485 chr15:41785812-41785822 chr15:41787550-41787560 chr15:41787156-41787165 chr15:41788476-41788483
46	HEY1	chr15:41785126-41786978	HepG2	liver:	n/a	chr15:41785795-41785810
47	POLR2A	chr15:41785189-41786218	HCT-116	colon:	n/a	n/a
48	POLR2A	chr15:41785281-41786100	Gliobla	brain:	n/a	n/a
49	TCF7L2	chr15:41785298-41786169	HCT-116	colon:	n/a	n/a
50	TFAP2A	chr15:41785279-41786187	Hela-S3	cervix:	n/a	chr15:41785824-41785835 chr15:41785820-41785835 chr15:41785824-41785835 chr15:41785528-41785542 chr15:41786081-41786093 chr15:41785824-41785835 chr15:41785824-41785835 chr15:41785842-41785857

No.	Distal block	Cell Line	Cell type
1	chr15:41783642..41785495-chr15:41786905..41788686,2	K562	blood:
2	chr15:41784287..41786620-chr15:41827580..41829440,3	K562	blood:
3	chr15:41767730..41772843-chr15:41782564..41789351,11	K562	blood:
4	chr15:41785172..41787151-chr15:41835585..41837884,2	MCF-7	breast:
5	chr15:41784591..41787497-chr15:41813598..41816388,3	K562	blood:
6	chr15:41784244..41787186-chr15:41835793..41838130,2	MCF-7	breast:
7	chr15:41783980..41786928-chr15:41835398..41839034,5	K562	blood:
8	chr15:41784400..41789772-chr15:41847283..41854059,7	K562	blood:
9	chr15:41785165..41786030-chr5:90678927..90679709,2	Hela-S3	cervix:

Variant related genes	Relation type
ITPKA	TF binding region
ENSG00000259838	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000103932	Chromatin interaction
ENSG00000092445	Chromatin interaction
ENSG00000137815	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524476	chr15:41689232-41820200	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv904110	chr15:41776692-41813279	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv904111	chr15:41777898-41805115	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv471241	chr15:41783814-41820200	Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv569233	chr15:41784809-41805237	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr15:41784600-41786000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr15:41784800-41785600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
3	chr15:41784800-41785600	Flanking Active TSS	Fetal Intestine Small	intestine
4	chr15:41784800-41785600	Flanking Active TSS	Right Ventricle	heart
5	chr15:41784800-41785600	Flanking Active TSS	Hela-S3	cervix
6	chr15:41784800-41785800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr15:41784800-41785800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr15:41784800-41785800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr15:41784800-41785800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
10	chr15:41784800-41785800	Flanking Active TSS	Dnd41	blood
11	chr15:41784800-41785800	Flanking Active TSS	GM12878-XiMat	blood
12	chr15:41784800-41785800	Flanking Active TSS	NHLF	lung
13	chr15:41784800-41786000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
14	chr15:41785000-41785600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr15:41785000-41785600	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:41785000-41785600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr15:41785000-41785600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr15:41785000-41785600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
19	chr15:41785000-41785600	Flanking Active TSS	Spleen	Spleen
20	chr15:41785000-41785600	Enhancers	HSMMtube	muscle
21	chr15:41785000-41785600	Flanking Active TSS	NHEK	skin
22	chr15:41785000-41785800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:41785000-41785800	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr15:41785000-41785800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr15:41785000-41785800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr15:41785000-41785800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
27	chr15:41785000-41785800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr15:41785000-41785800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
29	chr15:41785000-41785800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr15:41785000-41785800	Flanking Active TSS	Stomach Mucosa	stomach
31	chr15:41785000-41785800	Flanking Active TSS	HSMM	muscle
32	chr15:41785000-41785800	Flanking Bivalent TSS/Enh	Osteobl	bone
33	chr15:41785000-41786000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr15:41785000-41786000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr15:41785000-41786000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:41785000-41786000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:41785000-41786000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:41785000-41786000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:41785000-41786000	Flanking Active TSS	HUVEC	blood vessel
40	chr15:41785000-41786000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr15:41785000-41786400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
42	chr15:41785000-41787000	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr15:41785000-41788800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr15:41785200-41785600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:41785200-41785600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:41785200-41785600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
47	chr15:41785200-41785600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr15:41785200-41785600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:41785200-41785600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr15:41785200-41785600	Flanking Active TSS	Brain Cingulate Gyrus	brain

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