Variant report

Variant	rs568998596
Chromosome Location	chr15:40732821-40732822
allele	C/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	CTCF	chr15:40732820-40732970	GM06990	blood:	n/a	n/a
2	MXI1	chr15:40731395-40734925	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr15:40728064-40734370	K562	blood:	n/a	n/a
4	CTCF	chr15:40732800-40732950	HRE	kidney:	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	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
10	MAX	chr15:40732769-40733117	K562	blood:	n/a	chr15:40732940-40732950
11	RUNX3	chr15:40732799-40733319	GM12878	blood:	n/a	n/a
12	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
13	POLR2A	chr15:40731974-40733265	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr15:40732698-40733695	NB4	blood:	n/a	n/a
15	MAX	chr15:40732660-40733587	A549	lung:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
16	POLR2A	chr15:40732667-40733380	HepG2	liver:	n/a	n/a
17	POLR2A	chr15:40731312-40733266	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr15:40732379-40733269	H1-hESC	embryonic stem cell:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
19	MAX	chr15:40732529-40733035	H1-hESC	embryonic stem cell:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
20	MAX	chr15:40732687-40733259	HepG2	liver:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
21	CHD2	chr15:40732757-40733786	Hela-S3	cervix:	n/a	chr15:40733663-40733673 chr15:40733500-40733510 chr15:40732935-40732945
22	TCF12	chr15:40731717-40733275	ECC-1	luminal epithelium:	n/a	chr15:40732643-40732653 chr15:40732011-40732018
23	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
24	POLR2A	chr15:40732807-40733757	GM12892	blood:	n/a	n/a
25	POLR2A	chr15:40732723-40733198	U87	brain:	n/a	n/a
26	MAX	chr15:40732795-40733679	HepG2	liver:	n/a	chr15:40732940-40732950
27	POLR2A	chr15:40732691-40733640	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr15:40732677-40733763	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr15:40731422-40733782	K562	blood:	n/a	n/a
30	USF1	chr15:40732767-40733172	ECC-1	luminal epithelium:	n/a	n/a
31	TAF1	chr15:40732818-40733860	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr15:40732727-40733198	U87	brain:	n/a	n/a
33	EP300	chr15:40732752-40733133	K562	blood:	n/a	n/a
34	MYC	chr15:40731745-40733764	K562	blood:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
35	SIN3AK20	chr15:40731647-40732901	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr15:40732800-40732950	GM12865	blood:	n/a	n/a
37	RCOR1	chr15:40731458-40733568	K562	blood:	n/a	n/a
38	RFX5	chr15:40731436-40734230	SK-N-SH	brain:	n/a	chr15:40733095-40733104 chr15:40732991-40733000 chr15:40732189-40732203
39	MYC	chr15:40732813-40733117	MCF-7	breast:	n/a	chr15:40732940-40732950
40	CREB1	chr15:40732797-40733805	HepG2	liver:	n/a	n/a
41	POLR2A	chr15:40730936-40733250	SK-N-MC	brain:	n/a	n/a
42	CCNT2	chr15:40732586-40734614	K562	blood:	n/a	chr15:40732903-40732912 chr15:40734332-40734341 chr15:40733476-40733485
43	E2F6	chr15:40732738-40733223	H1-hESC	embryonic stem cell:	n/a	chr15:40733096-40733105 chr15:40733064-40733073
44	POLR2A	chr15:40730497-40732956	K562	blood:	n/a	n/a
45	CTCF	chr15:40732820-40732970	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr15:40732773-40733769	GM18951	blood:	n/a	n/a
47	GABPA	chr15:40732807-40733359	SK-N-SH	brain:	n/a	n/a
48	ELF1	chr15:40732548-40733227	GM12878	blood:	n/a	chr15:40733188-40733200
49	ELF1	chr15:40732792-40733371	MCF-7	breast:	n/a	chr15:40733188-40733200
50	SP1	chr15:40732742-40733273	A549	lung:	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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40732820-40732870	SK-N-SH	brain:	n/a
2	chr15:40732803-40732853	Caco-2	colon:	n/a
3	chr15:40732803-40732853	AG10803	skin:	n/a
4	chr15:40732803-40732853	AG04450	lung:	fetal
5	chr15:40732820-40732870	A549	lung:	n/a
6	chr15:40732820-40732870	BJ	skin:	n/a
7	chr15:40732820-40732870	HL-60	blood:	n/a
8	chr15:40732820-40732870	H1-hESC	embryonic stem cell:	embryo
9	chr15:40732820-40732870	MCF10A-Er-Src	breast:	n/a
10	chr15:40732803-40732853	HMEC	breast:	n/a
11	chr15:40732820-40732870	NB4	blood:	n/a
12	chr15:40732803-40732853	GM12892	blood:	n/a
13	chr15:40732820-40732870	Caco-2	colon:	n/a
14	chr15:40732820-40732870	GM12878	blood:	n/a
15	chr15:40732820-40732870	BE2_C	brain:	n/a
16	chr15:40732803-40732853	PrEC	prostate:	n/a
17	chr15:40732803-40732853	SK-N-SH	brain:	n/a
18	chr15:40732820-40732870	HCPEpiC	choroid plexus:	n/a
19	chr15:40732803-40732853	AoSMC	blood vessel:	n/a
20	chr15:40732820-40732870	GM12891	blood:	n/a
21	chr15:40732820-40732870	HCM	heart:	n/a
22	chr15:40732803-40732853	HepG2	liver:	n/a
23	chr15:40732820-40732870	HAEpiC	amniotic membrane:	n/a
24	chr15:40732820-40732870	SK-N-MC	brain:	n/a
25	chr15:40732803-40732853	NT2-D1	testis:	n/a
26	chr15:40732803-40732853	HCF	heart:	n/a
27	chr15:40732803-40732853	SK-N-MC	brain:	n/a
28	chr15:40732820-40732870	MCF-7	breast:	n/a
29	chr15:40732820-40732870	NHDF-neo	bronchial:	n/a
30	chr15:40732803-40732853	HRPEpiC	eye:	n/a
31	chr15:40732803-40732853	Hela-S3	cervix:	n/a
32	chr15:40732803-40732853	MCF-7	breast:	n/a
33	chr15:40732803-40732853	IMR90	lung:	fetal
34	chr15:40732820-40732870	Jurkat	blood:	n/a
35	chr15:40732820-40732870	IMR90	lung:	fetal
36	chr15:40732803-40732853	HUVEC	blood vessel:	n/a
37	chr15:40732820-40732870	AG04450	lung:	fetal
38	chr15:40732803-40732853	HPAEpiC	pulmonary alveolar:	n/a
39	chr15:40732820-40732870	T-47D	breast:	n/a
40	chr15:40732803-40732853	HCT-116	colon:	n/a
41	chr15:40732803-40732853	ECC-1	luminal epithelium:	n/a
42	chr15:40732803-40732853	HCPEpiC	choroid plexus:	n/a
43	chr15:40732820-40732870	CMK	blood:	n/a
44	chr15:40732820-40732870	PANC-1	pancreas:	n/a
45	chr15:40732803-40732853	RPTEC	kidney:	n/a
46	chr15:40732803-40732853	HEEpiC	esophagus:	n/a
47	chr15:40732803-40732853	NHBE	bronchial:	n/a
48	chr15:40732803-40732853	Jurkat	blood:	n/a
49	chr15:40732803-40732853	AG09319	gingival:	n/a
50	chr15:40732803-40732853	Hepatocyte	liver:	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
ENSG00000140323	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000259211	Chromatin interaction
ENSG00000169105	Chromatin interaction
ENSG00000259536	Chromatin interaction
ENSG00000259368	Chromatin interaction
ENSG00000259364	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000137824	Chromatin interaction
ENSG00000140320	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:125 , 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	chr15:40732000-40733000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr15:40732000-40733000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr15:40732000-40733600	Active TSS	Right Atrium	heart
17	chr15:40732000-40734600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:40732000-40734600	Active TSS	A549	lung
19	chr15:40732000-40734800	Active TSS	K562	blood
20	chr15:40732000-40735400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:40732000-40735600	Active TSS	Brain Substantia Nigra	brain
22	chr15:40732200-40733000	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr15:40732200-40733200	Active TSS	Fetal Kidney	kidney
24	chr15:40732200-40734200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:40732200-40734600	Active TSS	Ovary	ovary
26	chr15:40732200-40734600	Active TSS	Pancreas	Pancrea
27	chr15:40732200-40734800	Active TSS	Aorta	Aorta
28	chr15:40732200-40734800	Active TSS	Psoas Muscle	Psoas
29	chr15:40732200-40734800	Active TSS	NHDF-Ad	bronchial
30	chr15:40732400-40733000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:40732400-40734000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:40732400-40734600	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr15:40732400-40734600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr15:40732400-40734600	Active TSS	Lung	lung
35	chr15:40732400-40734600	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr15:40732400-40734800	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr15:40732400-40734800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:40732400-40734800	Active TSS	Brain Hippocampus Middle	brain
39	chr15:40732400-40734800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr15:40732400-40734800	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr15:40732400-40734800	Active TSS	Right Ventricle	heart
42	chr15:40732400-40734800	Active TSS	Small Intestine	intestine
43	chr15:40732600-40733400	Weak transcription	Gastric	stomach
44	chr15:40732600-40733400	Weak transcription	Spleen	Spleen
45	chr15:40732600-40734000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:40732600-40734000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:40732600-40734000	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr15:40732600-40734400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:40732600-40734400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:40732600-40734400	Active TSS	Placenta Amnion	Placenta Amnion

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