Variant report

Variant	rs576984893
Chromosome Location	chr15:83621692-83621693
allele	C/T
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	EGR1	chr15:83621527-83621784	K562	blood:	n/a	chr15:83621692-83621705
2	CTBP2	chr15:83620873-83621696	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr15:83621086-83621746	ECC-1	luminal epithelium:	n/a	n/a
4	EGR1	chr15:83621483-83621836	ECC-1	luminal epithelium:	n/a	chr15:83621692-83621705
5	NFIC	chr15:83621424-83622072	SK-N-SH	brain:	n/a	n/a
6	NRF1	chr15:83621137-83622158	SK-N-SH	brain:	n/a	chr15:83621260-83621269 chr15:83621249-83621258 chr15:83621337-83621346
7	ZBTB7A	chr15:83621348-83621977	ECC-1	luminal epithelium:	n/a	n/a
8	CEBPB	chr15:83621397-83621930	A549	lung:	n/a	n/a
9	MAZ	chr15:83621518-83621815	HepG2	liver:	n/a	chr15:83621701-83621710 chr15:83621591-83621601
10	MAX	chr15:83620809-83621892	MCF-7	breast:	n/a	chr15:83621112-83621122 chr15:83621701-83621710 chr15:83621591-83621601
11	POLR2A	chr15:83621245-83621820	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr15:83620962-83621779	MCF-7	breast:	n/a	n/a
13	POLR2A	chr15:83621239-83621842	H1-neurons	neurons:	n/a	n/a
14	CEBPB	chr15:83621335-83621801	MCF-7	breast:	n/a	n/a
15	CEBPB	chr15:83621516-83621752	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZBTB7A	chr15:83621386-83621735	HepG2	liver:	n/a	n/a
17	POLR2A	chr15:83621151-83621762	A549	lung:	n/a	n/a
18	MAX	chr15:83620875-83621843	ECC-1	luminal epithelium:	n/a	chr15:83621112-83621122 chr15:83621701-83621710 chr15:83621591-83621601
19	POLR2A	chr15:83621237-83621728	MCF-7	breast:	n/a	n/a
20	POLR2A	chr15:83621227-83621846	HEK293	kidney:	n/a	n/a
21	TBP	chr15:83620995-83621764	H1-hESC	embryonic stem cell:	n/a	n/a
22	NFIC	chr15:83621433-83621946	SK-N-SH	brain:	n/a	n/a
23	SIN3A	chr15:83620798-83621833	H1-hESC	embryonic stem cell:	n/a	chr15:83621623-83621636 chr15:83621625-83621636 chr15:83621391-83621404 chr15:83621567-83621580
24	RAD21	chr15:83621458-83621825	H1-hESC	embryonic stem cell:	n/a	n/a
25	NFIC	chr15:83620849-83622062	ECC-1	luminal epithelium:	n/a	n/a
26	MYC	chr15:83621205-83621746	H1-hESC	embryonic stem cell:	n/a	chr15:83621701-83621710 chr15:83621591-83621601
27	HA-E2F1	chr15:83620444-83621975	MCF-7	breast:	n/a	chr15:83621691-83621700 chr15:83621676-83621686 chr15:83621402-83621412
28	NFIC	chr15:83621552-83621855	HepG2	liver:	n/a	n/a
29	MAX	chr15:83620823-83621963	H1-hESC	embryonic stem cell:	n/a	chr15:83621112-83621122 chr15:83621701-83621710 chr15:83621591-83621601
30	TAF1	chr15:83621292-83621817	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr15:83621596-83621919	H1-hESC	embryonic stem cell:	n/a	n/a
32	TCF12	chr15:83621410-83622046	ECC-1	luminal epithelium:	n/a	n/a
33	MAX	chr15:83620745-83622027	A549	lung:	n/a	chr15:83621112-83621122 chr15:83621701-83621710 chr15:83621591-83621601
34	MAX	chr15:83620897-83621844	H1-hESC	embryonic stem cell:	n/a	chr15:83621112-83621122 chr15:83621701-83621710 chr15:83621591-83621601
35	JUND	chr15:83621553-83621765	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr15:83621359-83621842	ECC-1	luminal epithelium:	n/a	n/a
37	BACH1	chr15:83621608-83621841	H1-hESC	embryonic stem cell:	n/a	n/a
38	NFIC	chr15:83621359-83622135	ECC-1	luminal epithelium:	n/a	n/a
39	ZBTB7A	chr15:83621362-83621922	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:83620495..83623262-chr15:83678706..83680302,2	MCF-7	breast:
2	chr15:83620048..83621695-chr15:83654415..83656923,3	MCF-7	breast:
3	chr15:83619377..83622023-chr15:83652376..83655486,3	MCF-7	breast:

Variant related genes	Relation type
HOMER2	TF binding region
ENSG00000103942	Chromatin interaction
ENSG00000169612	Chromatin interaction
ENSG00000169609	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040336	chr15:83578947-83768335	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv482308	chr15:83584918-83747362	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3361256	chr15:83620373-83622921	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3332267	chr15:83620548-83622646	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83618800-83622000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr15:83619400-83622000	Active TSS	Fetal Kidney	kidney
3	chr15:83619800-83621800	Active TSS	Gastric	stomach
4	chr15:83619800-83622200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr15:83620000-83622000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
6	chr15:83620200-83622200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr15:83620200-83622200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:83620400-83621800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:83620400-83621800	Active TSS	Right Ventricle	heart
10	chr15:83620400-83621800	Active TSS	A549	lung
11	chr15:83620400-83621800	Active TSS	HSMM	muscle
12	chr15:83620400-83621800	Active TSS	NHDF-Ad	bronchial
13	chr15:83620400-83622000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:83620400-83622000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
15	chr15:83620400-83622000	Active TSS	Brain Substantia Nigra	brain
16	chr15:83620400-83622200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr15:83620600-83621800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:83620600-83621800	Active TSS	Muscle Satellite Cultured Cells	--
19	chr15:83620600-83621800	Active TSS	Brain Anterior Caudate	brain
20	chr15:83620600-83621800	Active TSS	Left Ventricle	heart
21	chr15:83620600-83621800	Active TSS	Rectal Smooth Muscle	rectum
22	chr15:83620600-83621800	Active TSS	Right Atrium	heart
23	chr15:83620600-83622000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:83620600-83622000	Active TSS	Psoas Muscle	Psoas
25	chr15:83620600-83622000	Active TSS	Spleen	Spleen
26	chr15:83620600-83622000	Active TSS	Osteobl	bone
27	chr15:83620600-83622200	Active TSS	H9 Cell Line	embryonic stem cell
28	chr15:83620600-83622200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr15:83620600-83622200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr15:83620600-83622200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr15:83620600-83622200	Active TSS	Colon Smooth Muscle	Colon
32	chr15:83620800-83621800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:83620800-83621800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:83620800-83621800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:83620800-83621800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:83620800-83621800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
37	chr15:83620800-83621800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:83620800-83621800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:83620800-83621800	Active TSS	Brain Angular Gyrus	brain
40	chr15:83620800-83621800	Active TSS	Ovary	ovary
41	chr15:83620800-83621800	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr15:83620800-83622000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr15:83620800-83622000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr15:83620800-83622000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:83620800-83622000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr15:83620800-83622000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr15:83620800-83622000	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr15:83620800-83622000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr15:83620800-83622000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr15:83620800-83622000	Active TSS	Fetal Intestine Small	intestine

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