Variant report

Variant	rs552323731
Chromosome Location	chr15:100106180-100106181
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	TAF1	chr15:100105576-100106428	A549	lung:	n/a	n/a
2	GTF2B	chr15:100105988-100106262	K562	blood:	n/a	n/a
3	TAF1	chr15:100105872-100106348	SK-N-SH	brain:	n/a	n/a
4	PAX5	chr15:100105876-100106344	GM12891	blood:	n/a	chr15:100106118-100106127 chr15:100106281-100106290
5	POLR2A	chr15:100105739-100106368	HepG2	liver:	n/a	n/a
6	GTF2F1	chr15:100106009-100106271	K562	blood:	n/a	n/a
7	POLR2A	chr15:100105535-100106581	SK-N-MC	brain:	n/a	n/a
8	HEY1	chr15:100105543-100106452	K562	blood:	n/a	chr15:100106317-100106332 chr15:100106416-100106431 chr15:100105829-100105844
9	FOSL2	chr15:100105674-100106441	A549	lung:	n/a	chr15:100106360-100106369
10	CREB1	chr15:100105752-100106418	H1-hESC	embryonic stem cell:	n/a	n/a
11	PML	chr15:100105493-100106609	GM12878	blood:	n/a	n/a
12	MAX	chr15:100104636-100107183	HepG2	liver:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
13	MYC	chr15:100105984-100106252	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr15:100104866-100107196	GM18526	blood:	n/a	n/a
15	POU2F2	chr15:100105832-100106380	GM12891	blood:	n/a	chr15:100106354-100106366 chr15:100106252-100106264
16	TAF1	chr15:100105667-100106438	MCF-7	breast:	n/a	n/a
17	E2F6	chr15:100105356-100106452	Hela-S3	cervix:	n/a	chr15:100106118-100106127 chr15:100105667-100105677
18	PML	chr15:100105696-100106412	K562	blood:	n/a	n/a
19	TCF3	chr15:100105940-100106407	GM12878	blood:	n/a	n/a
20	POLR2A	chr15:100105256-100106576	Gliobla	brain:	n/a	n/a
21	POLR2A	chr15:100104893-100106445	MCF10A-Er-Src	breast:	n/a	n/a
22	EP300	chr15:100105752-100106359	K562	blood:	n/a	chr15:100106281-100106297
23	ZNF143	chr15:100104943-100106392	Hela-S3	cervix:	n/a	chr15:100105667-100105677
24	POLR2A	chr15:100105043-100107600	IMR90	lung:	n/a	n/a
25	NFATC1	chr15:100105746-100106417	GM12878	blood:	n/a	n/a
26	CBX3	chr15:100105904-100106208	K562	blood:	n/a	n/a
27	MAZ	chr15:100105134-100107727	IMR90	lung:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
28	MAZ	chr15:100105305-100106721	Hela-S3	cervix:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
29	CREB1	chr15:100105924-100106409	K562	blood:	n/a	n/a
30	TBP	chr15:100105772-100106359	HepG2	liver:	n/a	n/a
31	POLR2A	chr15:100105277-100106387	A549	lung:	n/a	n/a
32	JUN	chr15:100106061-100106332	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZNF143	chr15:100105872-100106390	H1-hESC	embryonic stem cell:	n/a	n/a
34	GABPA	chr15:100105692-100106397	SK-N-SH	brain:	n/a	chr15:100106117-100106131 chr15:100106114-100106128 chr15:100106117-100106128 chr15:100106117-100106126
35	SIN3AK20	chr15:100105909-100106419	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr15:100105329-100106442	K562	blood:	n/a	n/a
37	EP300	chr15:100105161-100106560	ECC-1	luminal epithelium:	n/a	chr15:100106361-100106370 chr15:100106281-100106297 chr15:100105661-100105677
38	POLR2A	chr15:100104650-100106558	GM12878	blood:	n/a	n/a
39	MAZ	chr15:100105079-100106416	K562	blood:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
40	POLR2A	chr15:100104544-100107315	Raji	blood:	n/a	n/a
41	WRNIP1	chr15:100105825-100106251	GM12878	blood:	n/a	n/a
42	MTA3	chr15:100105767-100106218	GM12878	blood:	n/a	n/a
43	ZNF143	chr15:100105723-100106337	K562	blood:	n/a	n/a
44	TCF7L2	chr15:100105747-100106249	PANC-1	pancreas:	n/a	n/a
45	MAZ	chr15:100105357-100106332	HepG2	liver:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
46	CEBPB	chr15:100105693-100106293	GM12878	blood:	n/a	n/a
47	SIN3AK20	chr15:100105928-100106371	H1-hESC	embryonic stem cell:	n/a	n/a
48	ELK1	chr15:100105726-100106329	GM12878	blood:	n/a	n/a
49	JUND	chr15:100105753-100106331	H1-hESC	embryonic stem cell:	n/a	n/a
50	SIN3A	chr15:100104521-100106405	H1-hESC	embryonic stem cell:	n/a	chr15:100106317-100106330

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:100106179-100106229	HRPEpiC	eye:	n/a
2	chr15:100106179-100106229	NT2-D1	testis:	n/a
3	chr15:100106179-100106229	A549	lung:	n/a
4	chr15:100106179-100106229	AoSMC	blood vessel:	n/a
5	chr15:100106179-100106229	HEEpiC	esophagus:	n/a
6	chr15:100106179-100106229	LNCaP	prostate:	n/a
7	chr15:100106179-100106229	HEK293	kidney:	embryo
8	chr15:100106179-100106229	T-47D	breast:	n/a
9	chr15:100106179-100106229	BJ	skin:	n/a
10	chr15:100106179-100106229	HepG2	liver:	n/a
11	chr15:100106179-100106229	SAEC	small airway:	n/a
12	chr15:100106179-100106229	SK-N-SH_RA	brain:	n/a
13	chr15:100106179-100106229	NHDF-neo	bronchial:	n/a
14	chr15:100106179-100106229	AG04449	skin:	fetal
15	chr15:100106179-100106229	PrEC	prostate:	n/a
16	chr15:100106179-100106229	GM19239	blood:	n/a
17	chr15:100106179-100106229	Hepatocyte	liver:	n/a
18	chr15:100106179-100106229	Jurkat	blood:	n/a
19	chr15:100106179-100106229	ECC-1	luminal epithelium:	n/a
20	chr15:100106179-100106229	HUVEC	blood vessel:	n/a
21	chr15:100106179-100106229	GM06990	blood:	n/a
22	chr15:100106179-100106229	SK-N-MC	brain:	n/a
23	chr15:100106179-100106229	NHBE	bronchial:	n/a
24	chr15:100106179-100106229	HRCEpiC	kidney:	n/a
25	chr15:100106179-100106229	AG09319	gingival:	n/a
26	chr15:100106179-100106229	HCPEpiC	choroid plexus:	n/a
27	chr15:100106179-100106229	Caco-2	colon:	n/a
28	chr15:100106179-100106229	NB4	blood:	n/a
29	chr15:100106179-100106229	H1-hESC	embryonic stem cell:	embryo
30	chr15:100106179-100106229	MCF-7	breast:	n/a
31	chr15:100106179-100106229	NH-A	brain:	n/a
32	chr15:100106179-100106229	PFSK-1	brain:	n/a
33	chr15:100106179-100106229	AG10803	skin:	n/a
34	chr15:100106179-100106229	HCT-116	colon:	n/a
35	chr15:100106179-100106229	IMR90	lung:	fetal
36	chr15:100106179-100106229	GM12891	blood:	n/a
37	chr15:100106179-100106229	HNPCEpiC	eye:	n/a
38	chr15:100106179-100106229	HRE	kidney:	n/a
39	chr15:100106179-100106229	HAEpiC	amniotic membrane:	n/a
40	chr15:100106179-100106229	GM12878	blood:	n/a
41	chr15:100106179-100106229	CMK	blood:	n/a
42	chr15:100106179-100106229	SK-N-SH	brain:	n/a
43	chr15:100106179-100106229	RPTEC	kidney:	n/a
44	chr15:100106179-100106229	HCM	heart:	n/a
45	chr15:100106179-100106229	SKMC	muscle:	n/a
46	chr15:100106179-100106229	PANC-1	pancreas:	n/a
47	chr15:100106179-100106229	AG09309	skin:	n/a
48	chr15:100106179-100106229	HCF	heart:	n/a
49	chr15:100106179-100106229	GM12892	blood:	n/a
50	chr15:100106179-100106229	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:100104091..100109623-chr15:100241901..100248412,10	MCF-7	breast:
2	chr15:100105316..100107211-chr15:100246606..100248832,2	MCF-7	breast:
3	chr15:100106105..100106617-chr8:117778724..117779225,2	HCT-116	colon:
4	chr15:100036529..100040308-chr15:100103797..100106516,3	MCF-7	breast:
5	chr15:99826876..99828722-chr15:100104864..100106375,2	MCF-7	breast:
6	chr15:100104936..100107605-chr15:100221549..100224496,2	MCF-7	breast:
7	chr15:100106039..100106558-chr19:39322403..39322903,2	NB4	blood:
8	chr15:100105670..100107207-chr15:100272767..100275061,2	MCF-7	breast:
9	chr15:100104819..100107629-chr15:100257615..100260464,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2054N24.2.1-7	chr15:100106133-100106309	NONHSAT050874

Variant related genes	Relation type
MEF2A	TF binding region
MEF2A	CpG island
ENSG00000269810	Chromatin interaction
ENSG00000104823	Chromatin interaction
ENSG00000214397	Chromatin interaction
ENSG00000183060	Chromatin interaction
ENSG00000068305	Chromatin interaction
ENSG00000168904	Chromatin interaction
ENSG00000201724	Chromatin interaction
ENSG00000147679	Chromatin interaction
ENSG00000147677	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv904558	chr15:100019382-100171684	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3438354	chr15:100105454-100108002	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr15:100105000-100106200	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr15:100105000-100107000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:100105000-100107200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr15:100105000-100107400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr15:100105000-100107600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr15:100105000-100107600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:100105000-100107800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:100105000-100108200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr15:100105000-100108400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr15:100105000-100108800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:100105200-100107200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:100105200-100107200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr15:100105200-100107200	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr15:100105200-100107200	Bivalent/Poised TSS	HepG2	liver
15	chr15:100105200-100107200	Active TSS	Osteobl	bone
16	chr15:100105200-100107400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:100105200-100107400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:100105200-100107400	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr15:100105200-100107400	Active TSS	Fetal Brain Female	brain
20	chr15:100105200-100107400	Active TSS	Gastric	stomach
21	chr15:100105200-100107600	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr15:100105200-100107600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:100105200-100107600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:100105200-100107600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:100105200-100107600	Active TSS	Brain Angular Gyrus	brain
26	chr15:100105200-100107600	Active TSS	Fetal Kidney	kidney
27	chr15:100105200-100107800	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr15:100105200-100107800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr15:100105200-100107800	Active TSS	Fetal Intestine Large	intestine
30	chr15:100105200-100107800	Active TSS	Ovary	ovary
31	chr15:100105200-100108000	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr15:100105200-100108000	Active TSS	HSMM	muscle
33	chr15:100105200-100108200	Active TSS	H1 Cell Line	embryonic stem cell
34	chr15:100105200-100108200	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr15:100105200-100108200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:100105200-100108200	Active TSS	HSMMtube	muscle
37	chr15:100105200-100108400	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr15:100105200-100109400	Active TSS	Right Atrium	heart
39	chr15:100105400-100106800	Active TSS	Primary T cells fromperipheralblood	blood
40	chr15:100105400-100106800	Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr15:100105400-100106800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr15:100105400-100107000	Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr15:100105400-100107000	Active TSS	Adipose Nuclei	Adipose
44	chr15:100105400-100107000	Active TSS	HUVEC	blood vessel
45	chr15:100105400-100107000	Active TSS	K562	blood
46	chr15:100105400-100107200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:100105400-100107200	Active TSS	Primary T cells from cord blood	blood
48	chr15:100105400-100107200	Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr15:100105400-100107200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr15:100105400-100107200	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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