Variant report

Variant	rs147471163
Chromosome Location	chr15:40732570-40732571
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	chr15:40728064-40734370	K562	blood:	n/a	n/a
3	SIN3A	chr15:40731624-40734535	H1-hESC	embryonic stem cell:	n/a	chr15:40732000-40732008 chr15:40733072-40733085 chr15:40734006-40734017 chr15:40732439-40732450
4	POLR2A	chr15:40731974-40733265	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr15:40731312-40733266	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr15:40732379-40733269	H1-hESC	embryonic stem cell:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
7	MAX	chr15:40732529-40733035	H1-hESC	embryonic stem cell:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
8	TCF12	chr15:40731717-40733275	ECC-1	luminal epithelium:	n/a	chr15:40732643-40732653 chr15:40732011-40732018
9	POLR2A	chr15:40731422-40733782	K562	blood:	n/a	n/a
10	HEY1	chr15:40731639-40732702	K562	blood:	n/a	n/a
11	POLR2A	chr15:40732021-40732592	U87	brain:	n/a	n/a
12	MYC	chr15:40731745-40733764	K562	blood:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
13	SIN3AK20	chr15:40731647-40732901	H1-hESC	embryonic stem cell:	n/a	n/a
14	RCOR1	chr15:40731458-40733568	K562	blood:	n/a	n/a
15	RFX5	chr15:40731436-40734230	SK-N-SH	brain:	n/a	chr15:40733095-40733104 chr15:40732991-40733000 chr15:40732189-40732203
16	UBTF	chr15:40731560-40732755	K562	blood:	n/a	n/a
17	POLR2A	chr15:40730936-40733250	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr15:40730497-40732956	K562	blood:	n/a	n/a
19	ELF1	chr15:40732548-40733227	GM12878	blood:	n/a	chr15:40733188-40733200
20	CTCF	chr15:40732560-40732710	HPF	lung:	n/a	n/a
21	POLR2A	chr15:40731546-40733944	H1-hESC	embryonic stem cell:	n/a	n/a
22	NFYA	chr15:40732548-40733263	K562	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
23	ZKSCAN1	chr15:40731679-40732636	Hela-S3	cervix:	n/a	n/a
24	ELF1	chr15:40732388-40733681	GM12878	blood:	n/a	chr15:40733188-40733200 chr15:40732421-40732432
25	POLR2A	chr15:40731670-40733548	K562	blood:	n/a	n/a
26	MAX	chr15:40732415-40733305	ECC-1	luminal epithelium:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
27	POLR2A	chr15:40731597-40733761	K562	blood:	n/a	n/a
28	MAX	chr15:40732385-40733237	H1-hESC	embryonic stem cell:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
29	POLR2A	chr15:40732339-40732727	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr15:40732540-40732690	SK-N-SH_RA	brain:	n/a	n/a
31	POLR2A	chr15:40732162-40733607	Raji	blood:	n/a	n/a
32	ZBTB7A	chr15:40732059-40734732	K562	blood:	n/a	chr15:40732240-40732247 chr15:40733668-40733677 chr15:40733498-40733505
33	ZBTB7A	chr15:40731691-40733091	ECC-1	luminal epithelium:	n/a	chr15:40732240-40732247
34	MYC	chr15:40731828-40733713	K562	blood:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
35	MAX	chr15:40731731-40733706	K562	blood:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
36	MAZ	chr15:40731340-40734776	IMR90	lung:	n/a	chr15:40732747-40732757 chr15:40734227-40734237 chr15:40732940-40732950
37	MYC	chr15:40732346-40733722	NB4	blood:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
38	ZBTB7A	chr15:40731710-40734343	ECC-1	luminal epithelium:	n/a	chr15:40732240-40732247 chr15:40733668-40733677 chr15:40733498-40733505
39	REST	chr15:40732504-40735060	H1-neurons	neurons:	n/a	chr15:40733354-40733372 chr15:40734769-40734782 chr15:40733679-40733692 chr15:40733075-40733088 chr15:40733072-40733085 chr15:40733348-40733361 chr15:40733672-40733685
40	MAZ	chr15:40731372-40734688	K562	blood:	n/a	chr15:40732747-40732757 chr15:40734227-40734237 chr15:40732940-40732950
41	POLR2A	chr15:40731669-40733273	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr15:40732486-40732618	HepG2	liver:	n/a	n/a
43	E2F6	chr15:40731843-40733188	K562	blood:	n/a	chr15:40733096-40733105 chr15:40733064-40733073
44	CTCF	chr15:40732520-40732670	GM12872	blood:	n/a	n/a
45	MAX	chr15:40731689-40733211	K562	blood:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
46	CTCF	chr15:40732420-40732570	AoAF	blood vessel:	n/a	n/a
47	CTBP2	chr15:40731562-40732717	H1-hESC	embryonic stem cell:	n/a	n/a
48	HMGN3	chr15:40731577-40732622	K562	blood:	n/a	n/a
49	MAZ	chr15:40731712-40733774	Hela-S3	cervix:	n/a	chr15:40732747-40732757 chr15:40732940-40732950
50	E2F6	chr15:40732512-40733305	H1-hESC	embryonic stem cell:	n/a	chr15:40733096-40733105 chr15:40733064-40733073

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	chr15:40732257..40736129-chr15:40757677..40760458,4	MCF-7	breast:
9	chr15:40731621..40739951-chr15:40753297..40765462,23	K562	blood:
10	chr15:40730539..40734458-chr15:40797952..40800684,3	K562	blood:
11	chr15:40731794..40734704-chr15:40761511..40763222,2	MCF-7	breast:

Variant related genes	Relation type
BAHD1	TF binding region
ENSG00000169105	Chromatin interaction
ENSG00000259211	Chromatin interaction
ENSG00000137824	Chromatin interaction
ENSG00000259364	Chromatin interaction
ENSG00000140323	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000259368	Chromatin interaction
ENSG00000140320	Chromatin interaction
ENSG00000259536	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40731200-40732800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
2	chr15:40731200-40734800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr15:40731400-40732600	Flanking Active TSS	Brain Angular Gyrus	brain
4	chr15:40731400-40732800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr15:40731400-40736000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:40731600-40732600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:40731600-40732600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:40731600-40732600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:40731600-40732600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
10	chr15:40731600-40732800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:40731600-40732800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:40731600-40732800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
13	chr15:40731600-40734800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr15:40731600-40735000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr15:40731600-40735200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:40731800-40732600	Flanking Bivalent TSS/Enh	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:40731800-40732600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:40731800-40732600	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr15:40731800-40732600	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr15:40731800-40732600	Flanking Active TSS	Esophagus	oesophagus
21	chr15:40731800-40732600	Flanking Bivalent TSS/Enh	Placenta	Placenta
22	chr15:40731800-40732600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr15:40731800-40732600	Enhancers	Spleen	Spleen
24	chr15:40731800-40732600	Flanking Bivalent TSS/Enh	Osteobl	bone
25	chr15:40731800-40732800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr15:40731800-40732800	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr15:40731800-40732800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
28	chr15:40731800-40732800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
29	chr15:40731800-40732800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr15:40731800-40732800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
31	chr15:40731800-40732800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
32	chr15:40731800-40732800	Flanking Bivalent TSS/Enh	Dnd41	blood
33	chr15:40731800-40732800	Flanking Active TSS	HMEC	breast
34	chr15:40731800-40732800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
35	chr15:40731800-40733400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:40731800-40734800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:40731800-40734800	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr15:40731800-40735000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr15:40731800-40735000	Active TSS	H1 Cell Line	embryonic stem cell
40	chr15:40731800-40735000	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr15:40731800-40735000	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr15:40731800-40735200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr15:40732000-40732600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr15:40732000-40732600	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr15:40732000-40732600	Active TSS	Gastric	stomach
46	chr15:40732000-40732600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
47	chr15:40732000-40732600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
48	chr15:40732000-40732600	Flanking Bivalent TSS/Enh	NHLF	lung
49	chr15:40732000-40732800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr15:40732000-40732800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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