Variant report

Variant	rs397963102
Chromosome Location	chr15:40762707-40762708
allele	-/AC
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	POLR2A	chr15:40762249-40763049	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr15:40762397-40764353	HepG2	liver:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
3	MAX	chr15:40762597-40763219	H1-hESC	embryonic stem cell:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
4	POLR2A	chr15:40762141-40763161	GM12891	blood:	n/a	n/a
5	ZBTB7A	chr15:40762423-40764538	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr15:40762156-40764091	GM12892	blood:	n/a	n/a
7	MAX	chr15:40762524-40763308	K562	blood:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
8	GABPA	chr15:40762643-40763052	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr15:40762504-40762871	K562	blood:	n/a	chr15:40762676-40762687
10	POLR2A	chr15:40762275-40763451	MCF-7	breast:	n/a	n/a
11	POLR2A	chr15:40762146-40763153	GM12892	blood:	n/a	n/a
12	ZNF263	chr15:40762592-40762919	HEK293-T-REx	kidney:	n/a	n/a
13	MTA3	chr15:40762459-40763191	GM12878	blood:	n/a	n/a
14	MAX	chr15:40762502-40763210	HepG2	liver:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
15	MYBL2	chr15:40762684-40763158	HepG2	liver:	n/a	n/a
16	SIN3AK20	chr15:40762622-40763170	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr15:40762124-40764649	HepG2	liver:	n/a	n/a
18	CCNT2	chr15:40762681-40763928	K562	blood:	n/a	chr15:40763395-40763404
19	MAX	chr15:40762572-40763220	ECC-1	luminal epithelium:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
20	POLR2A	chr15:40762658-40764624	ECC-1	luminal epithelium:	n/a	n/a
21	RCOR1	chr15:40762697-40763000	HepG2	liver:	n/a	n/a
22	ELF1	chr15:40762475-40763241	HepG2	liver:	n/a	chr15:40763055-40763066
23	CEBPB	chr15:40762543-40762812	K562	blood:	n/a	chr15:40762676-40762687
24	POLR2A	chr15:40762645-40763296	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:40762194-40763079	H1-hESC	embryonic stem cell:	n/a	n/a
26	E2F6	chr15:40762647-40763287	K562	blood:	n/a	n/a
27	POLR2A	chr15:40762116-40764390	K562	blood:	n/a	n/a
28	MAX	chr15:40762214-40763305	K562	blood:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
29	ELF1	chr15:40762553-40763283	K562	blood:	n/a	chr15:40763055-40763066
30	MAX	chr15:40762529-40764286	NB4	blood:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
31	TAF1	chr15:40762675-40763101	HepG2	liver:	n/a	n/a
32	USF2	chr15:40762595-40762788	H1-hESC	embryonic stem cell:	n/a	n/a
33	HMGN3	chr15:40762706-40764544	K562	blood:	n/a	chr15:40763039-40763048
34	NFATC1	chr15:40762314-40762831	GM12878	blood:	n/a	n/a
35	MAZ	chr15:40762587-40764174	K562	blood:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
36	HCFC1	chr15:40762543-40763071	K562	blood:	n/a	n/a
37	ELF1	chr15:40762633-40764646	GM12878	blood:	n/a	chr15:40763055-40763066
38	SIN3A	chr15:40762637-40763114	H1-hESC	embryonic stem cell:	n/a	n/a
39	TEAD4	chr15:40762431-40763115	K562	blood:	n/a	n/a
40	CTCF	chr15:40762580-40762730	SK-N-SH_RA	brain:	n/a	n/a
41	MAZ	chr15:40761986-40764139	IMR90	lung:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
42	POLR2A	chr15:40760705-40763222	K562	blood:	n/a	n/a
43	STAT5A	chr15:40762588-40763141	GM12878	blood:	n/a	n/a
44	POLR2A	chr15:40762603-40763110	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr15:40762647-40764038	GM12878	blood:	n/a	n/a
46	CEBPB	chr15:40762493-40762862	HepG2	liver:	n/a	chr15:40762676-40762687
47	POLR2A	chr15:40761478-40764066	PFSK-1	brain:	n/a	n/a
48	POLR2A	chr15:40762628-40764339	HUVEC	blood vessel:	n/a	n/a
49	CHD2	chr15:40762605-40762776	GM12878	blood:	n/a	n/a
50	GABPA	chr15:40762672-40763629	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40731621..40739951-chr15:40753297..40765462,23	K562	blood:
2	chr15:40757114..40759999-chr15:40761935..40763724,3	MCF-7	breast:
3	chr15:40746042..40747567-chr15:40761663..40764195,2	MCF-7	breast:
4	chr15:40761789..40767637-chr15:40797359..40801640,7	K562	blood:
5	chr15:40731794..40734704-chr15:40761511..40763222,2	MCF-7	breast:
6	chr15:40731823..40734826-chr15:40760868..40766207,7	K562	blood:
7	chr15:40761396..40764374-chr15:40800140..40802676,2	K562	blood:
8	chr15:40749483..40752811-chr15:40761476..40764713,3	MCF-7	breast:

Variant related genes	Relation type
CHST14	TF binding region
ENSG00000259211	TF binding region
ENSG00000140320	Chromatin interaction
ENSG00000259211	Chromatin interaction
ENSG00000259536	Chromatin interaction
ENSG00000259364	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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3373294	chr15:40762085-40765033	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv3525241	chr15:40762460-40764458	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	esv3525242	chr15:40762460-40764458	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40749200-40762800	Weak transcription	Small Intestine	intestine
2	chr15:40759400-40763400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr15:40761200-40762800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:40761200-40762800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr15:40761200-40762800	Enhancers	NHEK	skin
6	chr15:40761400-40762800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:40761600-40763800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:40761800-40762800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr15:40761800-40763000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:40762000-40762800	Enhancers	HSMM	muscle
11	chr15:40762000-40763000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:40762200-40762800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:40762200-40762800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:40762200-40762800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr15:40762200-40763000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:40762200-40763000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:40762200-40763000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr15:40762200-40763000	Enhancers	Fetal Heart	heart
19	chr15:40762200-40763200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:40762200-40764400	Active TSS	Fetal Kidney	kidney
21	chr15:40762400-40762800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr15:40762400-40762800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
23	chr15:40762400-40762800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr15:40762400-40762800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr15:40762400-40762800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr15:40762400-40762800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr15:40762400-40762800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:40762400-40762800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:40762400-40762800	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr15:40762400-40762800	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr15:40762400-40762800	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr15:40762400-40762800	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr15:40762400-40762800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr15:40762400-40762800	Flanking Active TSS	Pancreas	Pancrea
35	chr15:40762400-40762800	Enhancers	Spleen	Spleen
36	chr15:40762400-40763000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:40762400-40763000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr15:40762400-40763000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr15:40762400-40763000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr15:40762400-40763000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:40762400-40763000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr15:40762400-40763000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr15:40762400-40763000	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr15:40762400-40763000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr15:40762400-40763000	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr15:40762400-40763000	Flanking Active TSS	Liver	Liver
47	chr15:40762400-40763000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr15:40762400-40763000	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr15:40762400-40763000	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr15:40762400-40763000	Flanking Active TSS	Fetal Lung	lung

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