Variant report

Variant	rs538516201
Chromosome Location	chr15:76135766-76135767
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	MYC	chr15:76135065-76135790	H1-hESC	embryonic stem cell:	n/a	n/a
2	IRF1	chr15:76135288-76136028	K562	blood:	n/a	chr15:76135697-76135711 chr15:76135873-76135887
3	NANOG	chr15:76135329-76135902	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr15:76135623-76136854	GM12891	blood:	n/a	chr15:76135698-76135707 chr15:76135771-76135780 chr15:76135848-76135860 chr15:76135849-76135859 chr15:76135772-76135786 chr15:76135847-76135864 chr15:76135736-76135745 chr15:76136291-76136305
5	SIN3A	chr15:76135001-76137189	H1-hESC	embryonic stem cell:	n/a	chr15:76136504-76136515 chr15:76135370-76135383
6	PML	chr15:76135264-76136502	MCF-7	breast:	n/a	n/a
7	E2F6	chr15:76134880-76137011	A549	lung:	n/a	chr15:76136869-76136883 chr15:76135734-76135744 chr15:76135527-76135537 chr15:76135698-76135707 chr15:76135852-76135867
8	CEBPD	chr15:76135289-76136090	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:76135017-76136270	K562	blood:	n/a	n/a
10	TAF1	chr15:76135719-76135939	GM12892	blood:	n/a	n/a
11	UBTF	chr15:76134889-76137254	K562	blood:	n/a	n/a
12	ELF1	chr15:76135301-76136282	K562	blood:	n/a	chr15:76135878-76135890
13	YY1	chr15:76135214-76136403	ECC-1	luminal epithelium:	n/a	chr15:76135438-76135452 chr15:76135698-76135707 chr15:76135771-76135780 chr15:76135848-76135860 chr15:76135849-76135859 chr15:76135772-76135786 chr15:76135847-76135864 chr15:76135736-76135745 chr15:76136291-76136305
14	GABPA	chr15:76135183-76135985	K562	blood:	n/a	chr15:76135698-76135707
15	HDAC2	chr15:76135723-76136028	HepG2	liver:	n/a	n/a
16	E2F6	chr15:76135272-76135981	K562	blood:	n/a	chr15:76135734-76135744 chr15:76135527-76135537 chr15:76135698-76135707 chr15:76135852-76135867
17	REST	chr15:76135720-76135969	SK-N-SH	brain:	n/a	n/a
18	PAX5	chr15:76135686-76136049	GM12878	blood:	n/a	n/a
19	MYC	chr15:76135280-76135875	HepG2	liver:	n/a	n/a
20	MXI1	chr15:76134486-76137522	IMR90	lung:	n/a	n/a
21	POLR2A	chr15:76135010-76136490	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr15:76132928-76136942	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr15:76135701-76136251	GM12891	blood:	n/a	n/a
24	MYC	chr15:76134974-76136095	K562	blood:	n/a	n/a
25	POLR2A	chr15:76134967-76136428	HL-60	blood:	n/a	n/a
26	MAX	chr15:76135012-76136323	K562	blood:	n/a	n/a
27	POLR2A	chr15:76135050-76136594	H1-neurons	neurons:	n/a	n/a
28	HEY1	chr15:76135013-76136495	K562	blood:	n/a	chr15:76135764-76135779 chr15:76135767-76135782
29	POLR2A	chr15:76135073-76136856	K562	blood:	n/a	n/a
30	POLR2A	chr15:76134962-76136883	IMR90	lung:	n/a	n/a
31	TBP	chr15:76135097-76136950	K562	blood:	n/a	n/a
32	EGR1	chr15:76135394-76136034	MCF-7	breast:	n/a	chr15:76135731-76135744 chr15:76135734-76135743 chr15:76135731-76135744 chr15:76135732-76135743 chr15:76135734-76135744 chr15:76135707-76135717 chr15:76135733-76135743 chr15:76135773-76135783 chr15:76135731-76135744 chr15:76135696-76135705 chr15:76135693-76135706 chr15:76135731-76135744 chr15:76135613-76135627 chr15:76135704-76135717 chr15:76135731-76135745
33	TAF1	chr15:76135641-76136007	GM12878	blood:	n/a	n/a
34	MAX	chr15:76135136-76137105	HCT-116	colon:	n/a	n/a
35	TAF1	chr15:76135705-76136277	HepG2	liver:	n/a	n/a
36	TAL1	chr15:76135013-76136045	K562	blood:	n/a	n/a
37	YY1	chr15:76135671-76136001	HCT-116	colon:	n/a	chr15:76135698-76135707 chr15:76135771-76135780 chr15:76135848-76135860 chr15:76135849-76135859 chr15:76135772-76135786 chr15:76135847-76135864 chr15:76135736-76135745
38	BACH1	chr15:76135149-76136412	H1-hESC	embryonic stem cell:	n/a	n/a
39	MXI1	chr15:76135094-76136900	GM12878	blood:	n/a	n/a
40	POLR2A	chr15:76135233-76136494	Gliobla	brain:	n/a	n/a
41	CTCF	chr15:76135720-76135870	WERI-Rb-1	eye:	n/a	chr15:76135779-76135792 chr15:76135773-76135786 chr15:76135776-76135789
42	YY1	chr15:76135067-76136639	GM12878	blood:	n/a	chr15:76135438-76135452 chr15:76135698-76135707 chr15:76135771-76135780 chr15:76135848-76135860 chr15:76135849-76135859 chr15:76135772-76135786 chr15:76135847-76135864 chr15:76135736-76135745 chr15:76136291-76136305
43	MAZ	chr15:76134565-76137751	IMR90	lung:	n/a	n/a
44	E2F6	chr15:76134937-76136034	H1-hESC	embryonic stem cell:	n/a	chr15:76135734-76135744 chr15:76135527-76135537 chr15:76135698-76135707 chr15:76135852-76135867
45	MAX	chr15:76134414-76137112	A549	lung:	n/a	n/a
46	MYC	chr15:76135144-76136392	MCF-7	breast:	n/a	n/a
47	POLR2A	chr15:76135445-76136583	HCT-116	colon:	n/a	n/a
48	TAF1	chr15:76135100-76136010	K562	blood:	n/a	n/a
49	CREB1	chr15:76135020-76136791	HepG2	liver:	n/a	n/a
50	POLR2A	chr15:76135060-76136909	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:76135744-76135794	NHDF-neo	bronchial:	n/a
2	chr15:76135744-76135794	HRE	kidney:	n/a
3	chr15:76135744-76135794	Hepatocyte	liver:	n/a
4	chr15:76135744-76135794	AG09319	gingival:	n/a
5	chr15:76135744-76135794	BE2_C	brain:	n/a
6	chr15:76135744-76135794	GM12892	blood:	n/a
7	chr15:76135744-76135794	HEEpiC	esophagus:	n/a
8	chr15:76135744-76135794	HL-60	blood:	n/a
9	chr15:76135744-76135794	PrEC	prostate:	n/a
10	chr15:76135744-76135794	RPTEC	kidney:	n/a
11	chr15:76135744-76135794	HRCEpiC	kidney:	n/a
12	chr15:76135744-76135794	HNPCEpiC	eye:	n/a
13	chr15:76135744-76135794	A549	lung:	n/a
14	chr15:76135744-76135794	NT2-D1	testis:	n/a
15	chr15:76135744-76135794	NB4	blood:	n/a
16	chr15:76135744-76135794	PFSK-1	brain:	n/a
17	chr15:76135744-76135794	Caco-2	colon:	n/a
18	chr15:76135744-76135794	AG04450	lung:	fetal
19	chr15:76135744-76135794	PANC-1	pancreas:	n/a
20	chr15:76135744-76135794	AG10803	skin:	n/a
21	chr15:76135744-76135794	SK-N-SH	brain:	n/a
22	chr15:76135744-76135794	HEK293	kidney:	embryo
23	chr15:76135744-76135794	CMK	blood:	n/a
24	chr15:76135744-76135794	ProgFib	skin:	n/a
25	chr15:76135744-76135794	GM19239	blood:	n/a
26	chr15:76135744-76135794	GM06990	blood:	n/a
27	chr15:76135744-76135794	AG04449	skin:	fetal
28	chr15:76135744-76135794	Hela-S3	cervix:	n/a
29	chr15:76135744-76135794	HCT-116	colon:	n/a
30	chr15:76135744-76135794	AG09309	skin:	n/a
31	chr15:76135744-76135794	MCF10A-Er-Src	breast:	n/a
32	chr15:76135744-76135794	HPAEpiC	pulmonary alveolar:	n/a
33	chr15:76135744-76135794	SAEC	small airway:	n/a
34	chr15:76135744-76135794	HCF	heart:	n/a
35	chr15:76135744-76135794	NHBE	bronchial:	n/a
36	chr15:76135744-76135794	SK-N-SH_RA	brain:	n/a
37	chr15:76135744-76135794	LNCaP	prostate:	n/a
38	chr15:76135744-76135794	GM12891	blood:	n/a
39	chr15:76135744-76135794	HepG2	liver:	n/a
40	chr15:76135744-76135794	SK-N-MC	brain:	n/a
41	chr15:76135744-76135794	BJ	skin:	n/a
42	chr15:76135744-76135794	ECC-1	luminal epithelium:	n/a
43	chr15:76135744-76135794	HIPEpiC	eye:	n/a
44	chr15:76135744-76135794	SKMC	muscle:	n/a
45	chr15:76135744-76135794	HMEC	breast:	n/a
46	chr15:76135744-76135794	GM12878	blood:	n/a
47	chr15:76135744-76135794	Jurkat	blood:	n/a
48	chr15:76135744-76135794	T-47D	breast:	n/a
49	chr15:76135744-76135794	AoSMC	blood vessel:	n/a
50	chr15:76135744-76135794	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:76135545..76137145-chr15:76186509..76188555,3	MCF-7	breast:
2	chr12:69081083..69082998-chr15:76135423..76138290,2	MCF-7	breast:
3	chr15:76133681..76139746-chr15:76193985..76199740,23	MCF-7	breast:
4	chr15:76133451..76137775-chr15:76156108..76161375,6	MCF-7	breast:
5	chr15:76066670..76069216-chr15:76135374..76137197,2	MCF-7	breast:
6	chr15:76134186..76138083-chr15:76192925..76200499,13	K562	blood:
7	chr15:75659414..75661741-chr15:76133150..76135870,3	K562	blood:
8	chr15:76135754..76137278-chr15:76196181..76197882,2	K562	blood:
9	chr15:76135493..76137289-chr15:76195431..76198634,3	MCF-7	breast:
10	chr15:76135389..76135908-chr5:176853550..176854343,2	Hela-S3	cervix:
11	chr15:76134992..76136572-chr15:76350644..76353343,2	MCF-7	breast:
12	chr15:75917263..75918956-chr15:76135075..76137725,2	K562	blood:

Variant related genes	Relation type
UBE2Q2	TF binding region
UBE2Q2	CpG island
ENSG00000247363	Chromatin interaction
ENSG00000111581	Chromatin interaction
ENSG00000266308	Chromatin interaction
ENSG00000169371	Chromatin interaction
ENSG00000187812	Chromatin interaction
ENSG00000167196	Chromatin interaction
ENSG00000140400	Chromatin interaction
ENSG00000260274	Chromatin interaction
ENSG00000169752	Chromatin interaction
ENSG00000140367	Chromatin interaction
ENSG00000169758	Chromatin interaction
ENSG00000198055	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1044733	chr15:76120924-76228880	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3438606	chr15:76134422-76137270	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 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	chr15:76134800-76136200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr15:76134800-76136200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr15:76134800-76136600	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr15:76134800-76137000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:76134800-76137200	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr15:76134800-76137400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:76134800-76137400	Active TSS	Psoas Muscle	Psoas
8	chr15:76134800-76140400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:76135000-76135800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:76135000-76135800	Active TSS	Right Atrium	heart
11	chr15:76135000-76136200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr15:76135000-76136400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:76135000-76136600	Active TSS	Liver	Liver
14	chr15:76135000-76136800	Active TSS	Primary T cells from cord blood	blood
15	chr15:76135000-76136800	Active TSS	Brain Substantia Nigra	brain
16	chr15:76135000-76136800	Active TSS	Colonic Mucosa	Colon
17	chr15:76135000-76137000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:76135000-76137000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:76135000-76137000	Active TSS	Brain Angular Gyrus	brain
20	chr15:76135000-76137000	Active TSS	Brain Anterior Caudate	brain
21	chr15:76135000-76137000	Active TSS	Brain Cingulate Gyrus	brain
22	chr15:76135000-76137000	Active TSS	Brain Hippocampus Middle	brain
23	chr15:76135000-76137000	Active TSS	Colon Smooth Muscle	Colon
24	chr15:76135000-76137000	Active TSS	Fetal Kidney	kidney
25	chr15:76135000-76137000	Active TSS	Gastric	stomach
26	chr15:76135000-76137000	Active TSS	Left Ventricle	heart
27	chr15:76135000-76137000	Active TSS	Rectal Smooth Muscle	rectum
28	chr15:76135000-76137000	Active TSS	Stomach Smooth Muscle	stomach
29	chr15:76135000-76137000	Active TSS	A549	lung
30	chr15:76135000-76137200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:76135000-76137400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr15:76135000-76137400	Active TSS	Muscle Satellite Cultured Cells	--
33	chr15:76135000-76137400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr15:76135000-76137400	Active TSS	Ovary	ovary
35	chr15:76135000-76137400	Active TSS	HSMMtube	muscle
36	chr15:76135000-76137400	Active TSS	NHDF-Ad	bronchial
37	chr15:76135000-76137400	Active TSS	NHLF	lung
38	chr15:76135000-76137600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr15:76135000-76137600	Active TSS	H9 Cell Line	embryonic stem cell
40	chr15:76135000-76137600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:76135200-76136000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr15:76135200-76136200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
43	chr15:76135200-76136400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr15:76135200-76136600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr15:76135200-76136600	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr15:76135200-76136800	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr15:76135200-76137000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:76135200-76137000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr15:76135200-76137000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr15:76135200-76137000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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