Variant report

Variant	rs144402947
Chromosome Location	chr15:82339110-82339111
allele	-/CG
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	SIN3AK20	chr15:82338674-82339133	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr15:82338447-82339702	GM12878	blood:	n/a	chr15:82339221-82339237 chr15:82339681-82339697 chr15:82339357-82339373 chr15:82338533-82338549
3	POLR2A	chr15:82338204-82339590	GM15510	blood:	n/a	n/a
4	ATF3	chr15:82339030-82339888	A549	lung:	n/a	chr15:82339323-82339332 chr15:82339805-82339814 chr15:82339367-82339376 chr15:82339208-82339228
5	REST	chr15:82339061-82339778	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr15:82338116-82339896	K562	blood:	n/a	n/a
7	MAX	chr15:82339046-82339275	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr15:82337642-82339944	HUVEC	blood vessel:	n/a	n/a
9	TBP	chr15:82338050-82339815	K562	blood:	n/a	chr15:82338384-82338395
10	MAX	chr15:82338438-82339723	K562	blood:	n/a	chr15:82338617-82338627 chr15:82338600-82338610
11	HDAC2	chr15:82338401-82339953	MCF-7	breast:	n/a	chr15:82339152-82339171
12	TCF7L2	chr15:82337103-82339890	HCT-116	colon:	n/a	chr15:82337474-82337490 chr15:82337474-82337490 chr15:82337478-82337487
13	ZNF143	chr15:82337987-82339826	GM12878	blood:	n/a	chr15:82339040-82339050 chr15:82339278-82339288 chr15:82338183-82338201
14	RCOR1	chr15:82337511-82339717	Hela-S3	cervix:	n/a	n/a
15	REST	chr15:82336177-82340582	H1-neurons	neurons:	n/a	chr15:82339772-82339792 chr15:82337695-82337715 chr15:82337027-82337040 chr15:82338539-82338549
16	MYC	chr15:82337512-82340145	K562	blood:	n/a	chr15:82338617-82338627 chr15:82338600-82338610
17	SIN3AK20	chr15:82336778-82340508	MCF-7	breast:	n/a	n/a
18	CTCF	chr15:82338428-82340528	SK-N-SH	brain:	n/a	chr15:82339617-82339630 chr15:82339616-82339632 chr15:82339359-82339372 chr15:82339356-82339369
19	MYC	chr15:82338173-82340098	K562	blood:	n/a	chr15:82338617-82338627 chr15:82338600-82338610
20	ELF1	chr15:82338915-82339171	K562	blood:	n/a	n/a
21	SMARCC1	chr15:82338599-82339795	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr15:82338092-82340369	H1-hESC	embryonic stem cell:	n/a	n/a
23	TAF1	chr15:82338618-82339540	K562	blood:	n/a	n/a
24	POLR2A	chr15:82338273-82339520	GM12892	blood:	n/a	n/a
25	ELF1	chr15:82338697-82339804	GM12878	blood:	n/a	chr15:82339327-82339339
26	POLR2A	chr15:82338716-82339924	PBDE	blood:	n/a	n/a
27	EGR1	chr15:82338420-82339734	K562	blood:	n/a	chr15:82338602-82338616 chr15:82339684-82339694 chr15:82338653-82338667 chr15:82339616-82339629 chr15:82338574-82338588 chr15:82339617-82339627 chr15:82339093-82339106 chr15:82338601-82338614 chr15:82339094-82339104 chr15:82338616-82338626 chr15:82339560-82339570 chr15:82339374-82339383 chr15:82339557-82339570 chr15:82339422-82339431
28	PML	chr15:82338134-82340069	MCF-7	breast:	n/a	n/a
29	MAX	chr15:82338231-82340110	SK-N-SH	brain:	n/a	chr15:82338617-82338627 chr15:82338600-82338610
30	RAD21	chr15:82338873-82339937	IMR90	lung:	n/a	chr15:82339358-82339372 chr15:82339356-82339370 chr15:82339357-82339370 chr15:82339359-82339371
31	TAF1	chr15:82338347-82339340	ECC-1	luminal epithelium:	n/a	n/a
32	MYC	chr15:82338461-82340282	A549	lung:	n/a	chr15:82338617-82338627 chr15:82338600-82338610
33	BHLHE40	chr15:82337416-82340017	K562	blood:	n/a	chr15:82338216-82338232 chr15:82339221-82339237 chr15:82339681-82339697 chr15:82339357-82339373 chr15:82338533-82338549
34	EGR1	chr15:82338313-82339379	MCF-7	breast:	n/a	chr15:82338602-82338616 chr15:82338653-82338667 chr15:82338574-82338588 chr15:82339093-82339106 chr15:82338601-82338614 chr15:82339094-82339104 chr15:82338616-82338626
35	EP300	chr15:82338390-82339770	K562	blood:	n/a	chr15:82339347-82339363 chr15:82339362-82339371
36	BACH1	chr15:82338451-82340568	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr15:82338753-82339321	GM12892	blood:	n/a	n/a
38	POLR2A	chr15:82337933-82339542	Hela-S3	cervix:	n/a	n/a
39	CREB1	chr15:82337642-82339878	HepG2	liver:	n/a	n/a
40	EGR1	chr15:82338927-82339296	ECC-1	luminal epithelium:	n/a	chr15:82339093-82339106 chr15:82339094-82339104
41	NR3C1	chr15:82339049-82339857	A549	lung:	n/a	n/a
42	EGR1	chr15:82338367-82339220	K562	blood:	n/a	chr15:82338602-82338616 chr15:82338653-82338667 chr15:82338574-82338588 chr15:82339093-82339106 chr15:82338601-82338614 chr15:82339094-82339104 chr15:82338616-82338626
43	MXI1	chr15:82338556-82339745	HepG2	liver:	n/a	n/a
44	CEBPB	chr15:82338991-82339734	Hela-S3	cervix:	n/a	n/a
45	E2F6	chr15:82338454-82340383	A549	lung:	n/a	chr15:82339365-82339374 chr15:82338606-82338618 chr15:82338836-82338853 chr15:82340172-82340179 chr15:82339707-82339722 chr15:82338836-82338853 chr15:82339325-82339334
46	POLR2A	chr15:82338082-82339524	A549	lung:	n/a	n/a
47	POLR2A	chr15:82338134-82339465	HL-60	blood:	n/a	n/a
48	MAX	chr15:82338875-82339487	MCF-7	breast:	n/a	n/a
49	TBL1XR1	chr15:82338432-82339756	K562	blood:	n/a	n/a
50	POLR2A	chr15:82337651-82340028	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:82019963..82021794-chr15:82338805..82341012,2	K562	blood:
2	chr15:81772991..81773519-chr15:82338830..82339760,2	MCF-7	breast:
3	chr15:82161807..82163789-chr15:82338428..82340595,2	K562	blood:
4	chr15:82313172..82315891-chr15:82338607..82340341,2	MCF-7	breast:
5	chr15:82338618..82340658-chr15:82358570..82360235,2	MCF-7	breast:
6	chr15:82194966..82197509-chr15:82338812..82340977,2	K562	blood:
7	chr15:82338599..82339538-chr17:41393027..41393678,2	Hela-S3	cervix:
8	chr15:82338516..82340987-chr15:82386144..82387942,2	MCF-7	breast:
9	chr11:64877977..64880621-chr15:82337934..82340842,2	MCF-7	breast:
10	chr15:82088472..82091258-chr15:82337610..82339890,2	MCF-7	breast:
11	chr15:82303791..82305649-chr15:82338630..82341531,2	MCF-7	breast:

Variant related genes	Relation type
MEX3B	TF binding region
ENSG00000149809	Chromatin interaction
ENSG00000259692	Chromatin interaction
ENSG00000254501	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833067	chr15:82234980-82450485	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2422504	chr15:82293064-82426400	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv827415	chr15:82333348-82340769	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv3344827	chr15:82334647-82340995	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv3375136	chr15:82336922-82339870	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3440467	chr15:82337922-82340770	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv3396541	chr15:82338522-82341070	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 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	chr15:82335000-82340600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:82335400-82340400	Active TSS	HSMMtube	muscle
3	chr15:82335400-82340600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr15:82335400-82341200	Active TSS	Fetal Kidney	kidney
5	chr15:82335600-82340600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr15:82335800-82340400	Active TSS	Colon Smooth Muscle	Colon
7	chr15:82336200-82339800	Active TSS	Osteobl	bone
8	chr15:82336200-82340000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr15:82336200-82340200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:82336200-82340200	Active TSS	NHLF	lung
11	chr15:82336200-82340400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:82336200-82340400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:82336200-82340400	Active TSS	HSMM	muscle
14	chr15:82336400-82339800	Active TSS	Primary T cells from cord blood	blood
15	chr15:82336400-82340000	Active TSS	NHDF-Ad	bronchial
16	chr15:82336400-82340400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr15:82336400-82340400	Active TSS	Ovary	ovary
18	chr15:82336600-82339800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:82336600-82339800	Active TSS	Small Intestine	intestine
20	chr15:82336600-82340000	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr15:82336600-82340000	Active TSS	Muscle Satellite Cultured Cells	--
22	chr15:82336600-82340200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr15:82336600-82340200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:82336600-82340200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:82336600-82340200	Active TSS	Aorta	Aorta
26	chr15:82336600-82340200	Active TSS	Rectal Smooth Muscle	rectum
27	chr15:82336600-82340400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:82336600-82340400	Active TSS	Psoas Muscle	Psoas
29	chr15:82336600-82340400	Active TSS	A549	lung
30	chr15:82336800-82339800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr15:82336800-82339800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:82336800-82340000	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr15:82336800-82340000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:82336800-82340000	Active TSS	Brain Substantia Nigra	brain
35	chr15:82336800-82340000	Active TSS	Fetal Muscle Trunk	muscle
36	chr15:82336800-82340200	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr15:82336800-82340200	Active TSS	Brain Angular Gyrus	brain
38	chr15:82336800-82340200	Active TSS	Fetal Lung	lung
39	chr15:82336800-82340200	Active TSS	Right Atrium	heart
40	chr15:82336800-82340200	Active TSS	Thymus	Thymus
41	chr15:82336800-82340400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr15:82336800-82340400	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr15:82336800-82340400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr15:82336800-82340600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:82336800-82340600	Active TSS	NH-A	brain
46	chr15:82337000-82339800	Active TSS	HUVEC	blood vessel
47	chr15:82337000-82340000	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr15:82337000-82340000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr15:82337000-82340000	Active TSS	Right Ventricle	heart
50	chr15:82337000-82340200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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