Variant report

Variant	rs534201810
Chromosome Location	chr15:40733133-40733134
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	MXI1	chr15:40731395-40734925	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr15:40732955-40733208	GM12892	blood:	n/a	n/a
3	POLR2A	chr15:40728064-40734370	K562	blood:	n/a	n/a
4	GABPA	chr15:40732856-40733585	K562	blood:	n/a	n/a
5	MAX	chr15:40732733-40733244	MCF-7	breast:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
6	RUNX3	chr15:40732813-40733234	GM12878	blood:	n/a	n/a
7	SIN3A	chr15:40731624-40734535	H1-hESC	embryonic stem cell:	n/a	chr15:40732000-40732008 chr15:40733072-40733085 chr15:40734006-40734017 chr15:40732439-40732450
8	NFYA	chr15:40732739-40733257	Hela-S3	cervix:	n/a	chr15:40733064-40733076 chr15:40732988-40733003 chr15:40733060-40733075 chr15:40733092-40733107 chr15:40732988-40733003 chr15:40732991-40733001 chr15:40733093-40733107 chr15:40732992-40733004 chr15:40733063-40733073 chr15:40733092-40733107 chr15:40732990-40733003 chr15:40733095-40733105 chr15:40732989-40733003 chr15:40733096-40733108 chr15:40733056-40733074
9	RFX5	chr15:40732894-40733168	GM12878	blood:	n/a	chr15:40733095-40733104 chr15:40732991-40733000
10	FOXP2	chr15:40732891-40733162	SK-N-MC	brain:	n/a	n/a
11	SP1	chr15:40732774-40733205	GM12878	blood:	n/a	chr15:40733049-40733060 chr15:40733085-40733106 chr15:40733051-40733060 chr15:40733049-40733061 chr15:40733049-40733061 chr15:40732902-40732912 chr15:40732903-40732912 chr15:40732901-40732913 chr15:40732981-40733002 chr15:40732901-40732913 chr15:40732902-40732916
12	ELF1	chr15:40732921-40733204	HepG2	liver:	n/a	chr15:40733188-40733200
13	POLR2A	chr15:40733077-40733205	HepG2	liver:	n/a	n/a
14	BHLHE40	chr15:40732884-40733168	GM12878	blood:	n/a	n/a
15	NRF1	chr15:40732962-40733156	GM12878	blood:	n/a	n/a
16	RUNX3	chr15:40732799-40733319	GM12878	blood:	n/a	n/a
17	HEY1	chr15:40733036-40733219	HepG2	liver:	n/a	n/a
18	ELF1	chr15:40732832-40733397	MCF-7	breast:	n/a	chr15:40733188-40733200
19	NFYA	chr15:40732746-40733201	GM12878	blood:	n/a	chr15:40733064-40733076 chr15:40732988-40733003 chr15:40733060-40733075 chr15:40733092-40733107 chr15:40732988-40733003 chr15:40732991-40733001 chr15:40733093-40733107 chr15:40732992-40733004 chr15:40733063-40733073 chr15:40733092-40733107 chr15:40732990-40733003 chr15:40733095-40733105 chr15:40732989-40733003 chr15:40733096-40733108 chr15:40733056-40733074
20	CTCF	chr15:40733020-40733170	SAEC	small airway:	n/a	n/a
21	POLR2A	chr15:40731974-40733265	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr15:40732698-40733695	NB4	blood:	n/a	n/a
23	POLR2A	chr15:40732854-40733396	ProgFib	skin:	n/a	n/a
24	MAX	chr15:40732660-40733587	A549	lung:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
25	CHD2	chr15:40732877-40733167	H1-hESC	embryonic stem cell:	n/a	chr15:40732935-40732945
26	POLR2A	chr15:40732667-40733380	HepG2	liver:	n/a	n/a
27	POLR2A	chr15:40731312-40733266	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr15:40732379-40733269	H1-hESC	embryonic stem cell:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
29	PML	chr15:40732837-40733330	GM12878	blood:	n/a	n/a
30	YY1	chr15:40732866-40733214	HepG2	liver:	n/a	chr15:40732901-40732912 chr15:40733012-40733023 chr15:40733128-40733142 chr15:40733115-40733135 chr15:40732936-40732950 chr15:40733049-40733063 chr15:40733137-40733151
31	POLR2A	chr15:40733035-40733216	HepG2	liver:	n/a	n/a
32	MAX	chr15:40732687-40733259	HepG2	liver:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
33	CHD2	chr15:40732757-40733786	Hela-S3	cervix:	n/a	chr15:40733663-40733673 chr15:40733500-40733510 chr15:40732935-40732945
34	TCF12	chr15:40731717-40733275	ECC-1	luminal epithelium:	n/a	chr15:40732643-40732653 chr15:40732011-40732018
35	NFYB	chr15:40732692-40733254	Hela-S3	cervix:	n/a	chr15:40733064-40733076 chr15:40733062-40733077 chr15:40732988-40733003 chr15:40733060-40733075 chr15:40733092-40733107 chr15:40733094-40733109 chr15:40732988-40733003 chr15:40732991-40733001 chr15:40733093-40733107 chr15:40732992-40733004 chr15:40733063-40733073 chr15:40733092-40733107 chr15:40732990-40733003 chr15:40733095-40733105 chr15:40732989-40733003 chr15:40733026-40733041 chr15:40733096-40733108
36	ELF1	chr15:40732902-40733376	SK-N-SH	brain:	n/a	chr15:40733188-40733200
37	POLR2A	chr15:40732807-40733757	GM12892	blood:	n/a	n/a
38	POLR2A	chr15:40732723-40733198	U87	brain:	n/a	n/a
39	MAX	chr15:40732795-40733679	HepG2	liver:	n/a	chr15:40732940-40732950
40	POLR2A	chr15:40732691-40733640	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr15:40732677-40733763	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr15:40731422-40733782	K562	blood:	n/a	n/a
43	USF1	chr15:40732767-40733172	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr15:40732867-40733229	A549	lung:	n/a	n/a
45	TAF1	chr15:40732818-40733860	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr15:40732727-40733198	U87	brain:	n/a	n/a
47	EP300	chr15:40732752-40733133	K562	blood:	n/a	n/a
48	POLR2A	chr15:40732993-40733219	GM12878	blood:	n/a	n/a
49	MYC	chr15:40731745-40733764	K562	blood:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
50	TAF1	chr15:40732932-40733238	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40733110-40733160	HNPCEpiC	eye:	n/a
2	chr15:40733110-40733160	GM06990	blood:	n/a
3	chr15:40733110-40733160	MCF-7	breast:	n/a
4	chr15:40733110-40733160	PFSK-1	brain:	n/a
5	chr15:40733110-40733160	NH-A	brain:	n/a
6	chr15:40733110-40733160	BE2_C	brain:	n/a
7	chr15:40733110-40733160	SK-N-SH_RA	brain:	n/a
8	chr15:40733110-40733160	HCM	heart:	n/a
9	chr15:40733110-40733160	LNCaP	prostate:	n/a
10	chr15:40733110-40733160	IMR90	lung:	fetal
11	chr15:40733110-40733160	ProgFib	skin:	n/a
12	chr15:40733110-40733160	NHDF-neo	bronchial:	n/a
13	chr15:40733110-40733160	HAEpiC	amniotic membrane:	n/a
14	chr15:40733110-40733160	SAEC	small airway:	n/a
15	chr15:40733110-40733160	NB4	blood:	n/a
16	chr15:40733110-40733160	HIPEpiC	eye:	n/a
17	chr15:40733110-40733160	GM12892	blood:	n/a
18	chr15:40733110-40733160	HEEpiC	esophagus:	n/a
19	chr15:40733110-40733160	BJ	skin:	n/a
20	chr15:40733110-40733160	AG04450	lung:	fetal
21	chr15:40733110-40733160	HCF	heart:	n/a
22	chr15:40733110-40733160	GM12891	blood:	n/a
23	chr15:40733110-40733160	AG10803	skin:	n/a
24	chr15:40733110-40733160	HEK293	kidney:	embryo
25	chr15:40733110-40733160	NHBE	bronchial:	n/a
26	chr15:40733110-40733160	T-47D	breast:	n/a
27	chr15:40733110-40733160	HCPEpiC	choroid plexus:	n/a
28	chr15:40733110-40733160	Hela-S3	cervix:	n/a
29	chr15:40733110-40733160	GM12878	blood:	n/a
30	chr15:40733110-40733160	HepG2	liver:	n/a
31	chr15:40733110-40733160	Caco-2	colon:	n/a
32	chr15:40733110-40733160	Jurkat	blood:	n/a
33	chr15:40733110-40733160	AG09309	skin:	n/a
34	chr15:40733110-40733160	K562	blood:	n/a
35	chr15:40733110-40733160	RPTEC	kidney:	n/a
36	chr15:40733110-40733160	SKMC	muscle:	n/a
37	chr15:40733110-40733160	HMEC	breast:	n/a
38	chr15:40733110-40733160	A549	lung:	n/a
39	chr15:40733110-40733160	SK-N-SH	brain:	n/a
40	chr15:40733110-40733160	PANC-1	pancreas:	n/a
41	chr15:40733110-40733160	GM19239	blood:	n/a
42	chr15:40733110-40733160	AG04449	skin:	fetal
43	chr15:40733110-40733160	HRE	kidney:	n/a
44	chr15:40733110-40733160	ECC-1	luminal epithelium:	n/a
45	chr15:40733110-40733160	HPAEpiC	pulmonary alveolar:	n/a
46	chr15:40733110-40733160	HRPEpiC	eye:	n/a
47	chr15:40733110-40733160	AG09319	gingival:	n/a
48	chr15:40733110-40733160	HL-60	blood:	n/a
49	chr15:40733110-40733160	Hepatocyte	liver:	n/a
50	chr15:40733110-40733160	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40731663..40736686-chr15:40795056..40800792,8	K562	blood:
2	chr12:52444658..52445325-chr15:40732483..40733451,2	Hela-S3	cervix:
3	chr15:40732401..40734895-chr15:40758444..40760752,2	K562	blood:
4	chr15:40731823..40734826-chr15:40760868..40766207,7	K562	blood:
5	chr15:40729975..40738939-chr15:40745780..40750666,13	K562	blood:
6	chr15:40659428..40662346-chr15:40732080..40734388,2	MCF-7	breast:
7	chr15:40731340..40734041-chr15:41045866..41047695,2	K562	blood:
8	chr12:120730578..120731103-chr15:40732693..40733606,2	Hela-S3	cervix:
9	chr15:40732257..40736129-chr15:40757677..40760458,4	MCF-7	breast:
10	chr15:40731621..40739951-chr15:40753297..40765462,23	K562	blood:
11	chr15:40730539..40734458-chr15:40797952..40800684,3	K562	blood:
12	chr15:40731794..40734704-chr15:40761511..40763222,2	MCF-7	breast:

Variant related genes	Relation type
BAHD1	TF binding region
BAHD1	CpG island
ENSG00000123358	Chromatin interaction
ENSG00000259368	Chromatin interaction
ENSG00000137824	Chromatin interaction
ENSG00000140323	Chromatin interaction
ENSG00000169105	Chromatin interaction
ENSG00000259364	Chromatin interaction
ENSG00000259536	Chromatin interaction
ENSG00000259211	Chromatin interaction
ENSG00000140320	Chromatin interaction
ENSG00000200795	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	esv3442593	chr15:40731460-40735058	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	esv3437607	chr15:40732210-40735158	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv3377736	chr15:40732285-40734833	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40731200-40734800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr15:40731400-40736000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:40731600-40734800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr15:40731600-40735000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:40731600-40735200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:40731800-40733400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:40731800-40734800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:40731800-40734800	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr15:40731800-40735000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr15:40731800-40735000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr15:40731800-40735000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr15:40731800-40735000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr15:40731800-40735200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr15:40732000-40733600	Active TSS	Right Atrium	heart
15	chr15:40732000-40734600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:40732000-40734600	Active TSS	A549	lung
17	chr15:40732000-40734800	Active TSS	K562	blood
18	chr15:40732000-40735400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:40732000-40735600	Active TSS	Brain Substantia Nigra	brain
20	chr15:40732200-40733200	Active TSS	Fetal Kidney	kidney
21	chr15:40732200-40734200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:40732200-40734600	Active TSS	Ovary	ovary
23	chr15:40732200-40734600	Active TSS	Pancreas	Pancrea
24	chr15:40732200-40734800	Active TSS	Aorta	Aorta
25	chr15:40732200-40734800	Active TSS	Psoas Muscle	Psoas
26	chr15:40732200-40734800	Active TSS	NHDF-Ad	bronchial
27	chr15:40732400-40734000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:40732400-40734600	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr15:40732400-40734600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr15:40732400-40734600	Active TSS	Lung	lung
31	chr15:40732400-40734600	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr15:40732400-40734800	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr15:40732400-40734800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:40732400-40734800	Active TSS	Brain Hippocampus Middle	brain
35	chr15:40732400-40734800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr15:40732400-40734800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr15:40732400-40734800	Active TSS	Right Ventricle	heart
38	chr15:40732400-40734800	Active TSS	Small Intestine	intestine
39	chr15:40732600-40733400	Weak transcription	Gastric	stomach
40	chr15:40732600-40733400	Weak transcription	Spleen	Spleen
41	chr15:40732600-40734000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:40732600-40734000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:40732600-40734000	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr15:40732600-40734400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:40732600-40734400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:40732600-40734400	Active TSS	Placenta Amnion	Placenta Amnion
47	chr15:40732600-40734600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:40732600-40734600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr15:40732600-40734600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr15:40732600-40734600	Active TSS	Primary T helper naive cells from peripheral blood	blood

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