Variant report

Variant	rs72995880
Chromosome Location	chr4:175750637-175750638
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	TBP	chr4:175750036-175750860	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr4:175750407-175750888	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr4:175750211-175750962	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr4:175750623-175750842	K562	blood:	n/a	n/a
5	SP1	chr4:175749968-175750855	H1-hESC	embryonic stem cell:	n/a	chr4:175750433-175750443 chr4:175750432-175750444 chr4:175750434-175750443 chr4:175750433-175750443 chr4:175750511-175750523 chr4:175750432-175750444 chr4:175750758-175750772 chr4:175750432-175750443 chr4:175750433-175750442
6	STAT3	chr4:175750498-175750650	MCF10A-Er-Src	breast:	n/a	n/a
7	CTCF	chr4:175750620-175750770	HRPEpiC	eye:	n/a	n/a
8	MAFK	chr4:175750584-175750896	HepG2	liver:	n/a	chr4:175750731-175750746 chr4:175750603-175750614 chr4:175750735-175750746 chr4:175750602-175750616
9	TAF1	chr4:175750053-175750948	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr4:175750107-175750837	MCF-7	breast:	n/a	n/a
11	REST	chr4:175749655-175750759	MCF-7	breast:	n/a	chr4:175750087-175750107 chr4:175750089-175750097 chr4:175750087-175750107 chr4:175750087-175750101 chr4:175750088-175750106 chr4:175750101-175750111 chr4:175750087-175750107
12	REST	chr4:175749736-175750711	PFSK-1	brain:	n/a	chr4:175750087-175750107 chr4:175750089-175750097 chr4:175750087-175750107 chr4:175750087-175750101 chr4:175750088-175750106 chr4:175750101-175750111 chr4:175750087-175750107
13	MAX	chr4:175749886-175750669	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr4:175750042-175751082	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr4:175750632-175750818	K562	blood:	n/a	n/a
16	MYC	chr4:175750028-175751019	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr4:175749996-175750926	H1-neurons	neurons:	n/a	n/a
18	ELF1	chr4:175750350-175750826	K562	blood:	n/a	n/a
19	MAFF	chr4:175750569-175750895	K562	blood:	n/a	chr4:175750730-175750748
20	TAF7	chr4:175750137-175750775	H1-hESC	embryonic stem cell:	n/a	n/a
21	TAF1	chr4:175750277-175750886	H1-hESC	embryonic stem cell:	n/a	n/a
22	ZNF143	chr4:175749898-175750914	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr4:175750280-175750826	MCF-7	breast:	n/a	n/a
24	E2F6	chr4:175750193-175751130	H1-hESC	embryonic stem cell:	n/a	chr4:175750578-175750590 chr4:175750462-175750471 chr4:175750417-175750425
25	CTCF	chr4:175750620-175750770	BE2_C	brain:	n/a	n/a
26	MAX	chr4:175749884-175751107	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr4:175750199-175750763	H1-hESC	embryonic stem cell:	n/a	n/a
28	PBX3	chr4:175750307-175750681	A549	lung:	n/a	chr4:175750489-175750498
29	EGR1	chr4:175750178-175750761	H1-hESC	embryonic stem cell:	n/a	chr4:175750428-175750441 chr4:175750428-175750441 chr4:175750431-175750440
30	POLR2A	chr4:175750162-175750838	MCF-7	breast:	n/a	n/a
31	REST	chr4:175749753-175750688	U87	brain:	n/a	chr4:175750087-175750107 chr4:175750089-175750097 chr4:175750087-175750107 chr4:175750087-175750101 chr4:175750088-175750106 chr4:175750101-175750111 chr4:175750087-175750107
32	CHD2	chr4:175749962-175750784	H1-hESC	embryonic stem cell:	n/a	n/a
33	PBX3	chr4:175750179-175750640	A549	lung:	n/a	chr4:175750489-175750498
34	MAFK	chr4:175750566-175750894	HepG2	liver:	n/a	chr4:175750731-175750746 chr4:175750603-175750614 chr4:175750735-175750746 chr4:175750602-175750616
35	SIN3AK20	chr4:175749685-175750978	MCF-7	breast:	n/a	n/a
36	E2F6	chr4:175749858-175751205	H1-hESC	embryonic stem cell:	n/a	chr4:175750578-175750590 chr4:175750462-175750471 chr4:175750417-175750425
37	SP1	chr4:175750280-175750886	H1-hESC	embryonic stem cell:	n/a	chr4:175750433-175750443 chr4:175750432-175750444 chr4:175750434-175750443 chr4:175750433-175750443 chr4:175750511-175750523 chr4:175750432-175750444 chr4:175750758-175750772 chr4:175750432-175750443 chr4:175750433-175750442
38	ELF1	chr4:175750288-175750653	K562	blood:	n/a	n/a
39	REST	chr4:175749643-175751180	H1-neurons	neurons:	n/a	chr4:175750087-175750107 chr4:175750089-175750097 chr4:175750087-175750107 chr4:175750087-175750101 chr4:175750088-175750106 chr4:175750101-175750111 chr4:175750087-175750107
40	EGR1	chr4:175750187-175750798	H1-hESC	embryonic stem cell:	n/a	chr4:175750428-175750441 chr4:175750428-175750441 chr4:175750431-175750440
41	GTF2F1	chr4:175750080-175750937	H1-hESC	embryonic stem cell:	n/a	n/a
42	JUND	chr4:175749827-175750933	H1-hESC	embryonic stem cell:	n/a	chr4:175750364-175750373
43	REST	chr4:175749755-175750673	U87	brain:	n/a	chr4:175750087-175750107 chr4:175750089-175750097 chr4:175750087-175750107 chr4:175750087-175750101 chr4:175750088-175750106 chr4:175750101-175750111 chr4:175750087-175750107
44	POLR2A	chr4:175749984-175750968	H1-neurons	neurons:	n/a	n/a
45	MAX	chr4:175749784-175750646	MCF-7	breast:	n/a	n/a
46	REST	chr4:175749657-175750670	MCF-7	breast:	n/a	chr4:175750087-175750107 chr4:175750089-175750097 chr4:175750087-175750107 chr4:175750087-175750101 chr4:175750088-175750106 chr4:175750101-175750111 chr4:175750087-175750107
47	TCF12	chr4:175750176-175750800	H1-hESC	embryonic stem cell:	n/a	chr4:175750349-175750359
48	MAX	chr4:175749800-175750949	K562	blood:	n/a	n/a
49	NFYB	chr4:175750307-175750758	K562	blood:	n/a	chr4:175750460-175750475 chr4:175750460-175750475 chr4:175750460-175750473
50	CTCF	chr4:175750620-175750770	WERI-Rb-1	eye:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:175750637-175750687	NH-A	brain:	n/a
2	chr4:175750637-175750687	HUVEC	blood vessel:	n/a
3	chr4:175750637-175750687	HAEpiC	amniotic membrane:	n/a
4	chr4:175750637-175750687	PANC-1	pancreas:	n/a
5	chr4:175750637-175750687	GM06990	blood:	n/a
6	chr4:175750637-175750687	AG04449	skin:	fetal
7	chr4:175750637-175750687	HMEC	breast:	n/a
8	chr4:175750637-175750687	HRE	kidney:	n/a
9	chr4:175750637-175750687	SK-N-MC	brain:	n/a
10	chr4:175750637-175750687	U87	brain:	n/a
11	chr4:175750637-175750687	T-47D	breast:	n/a
12	chr4:175750637-175750687	RPTEC	kidney:	n/a
13	chr4:175750637-175750687	GM12892	blood:	n/a
14	chr4:175750637-175750687	HNPCEpiC	eye:	n/a
15	chr4:175750637-175750687	Hepatocyte	liver:	n/a
16	chr4:175750637-175750687	Caco-2	colon:	n/a
17	chr4:175750637-175750687	SK-N-SH_RA	brain:	n/a
18	chr4:175750637-175750687	HL-60	blood:	n/a
19	chr4:175750637-175750687	IMR90	lung:	fetal
20	chr4:175750637-175750687	HIPEpiC	eye:	n/a
21	chr4:175750637-175750687	GM12891	blood:	n/a
22	chr4:175750637-175750687	SK-N-SH	brain:	n/a
23	chr4:175750637-175750687	Hela-S3	cervix:	n/a
24	chr4:175750637-175750687	PrEC	prostate:	n/a
25	chr4:175750637-175750687	NHBE	bronchial:	n/a
26	chr4:175750637-175750687	HEEpiC	esophagus:	n/a
27	chr4:175750637-175750687	HPAEpiC	pulmonary alveolar:	n/a
28	chr4:175750637-175750687	CMK	blood:	n/a
29	chr4:175750637-175750687	H1-hESC	embryonic stem cell:	embryo
30	chr4:175750637-175750687	MCF-7	breast:	n/a
31	chr4:175750637-175750687	BJ	skin:	n/a
32	chr4:175750637-175750687	AG10803	skin:	n/a
33	chr4:175750637-175750687	A549	lung:	n/a
34	chr4:175750637-175750687	NB4	blood:	n/a
35	chr4:175750637-175750687	SKMC	muscle:	n/a
36	chr4:175750637-175750687	AoSMC	blood vessel:	n/a
37	chr4:175750637-175750687	HepG2	liver:	n/a
38	chr4:175750637-175750687	GM12878	blood:	n/a
39	chr4:175750637-175750687	AG09319	gingival:	n/a
40	chr4:175750637-175750687	MCF10A-Er-Src	breast:	n/a
41	chr4:175750637-175750687	AG04450	lung:	fetal
42	chr4:175750637-175750687	NHDF-neo	bronchial:	n/a
43	chr4:175750637-175750687	GM19239	blood:	n/a
44	chr4:175750637-175750687	HCF	heart:	n/a
45	chr4:175750637-175750687	HEK293	kidney:	embryo
46	chr4:175750637-175750687	AG09309	skin:	n/a
47	chr4:175750637-175750687	HCM	heart:	n/a
48	chr4:175750637-175750687	HCT-116	colon:	n/a
49	chr4:175750637-175750687	ECC-1	luminal epithelium:	n/a
50	chr4:175750637-175750687	Jurkat	blood:	n/a

Variant related genes	Relation type
ADAM29	TF binding region
GLRA3	TF binding region
ADAM29	CpG island
GLRA3	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72998081	1.00[AFR][1000 genomes]
rs72998088	1.00[AFR][1000 genomes]
rs73006417	1.00[AFR][1000 genomes]

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	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1018390	chr4:175475505-175969742	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1034301	chr4:175656538-176055348	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv537364	chr4:175656538-176055348	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1030235	chr4:175663839-175969742	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv537365	chr4:175663839-175969742	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv830156	chr4:175725040-175916435	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175747200-175751600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr4:175749200-175751000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr4:175749400-175751200	Active TSS	Brain Angular Gyrus	brain
4	chr4:175749400-175751200	Active TSS	Brain Anterior Caudate	brain
5	chr4:175749400-175751400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr4:175749600-175751000	Active TSS	Brain Cingulate Gyrus	brain
7	chr4:175749600-175751000	Active TSS	Brain Germinal Matrix	brain
8	chr4:175749600-175751200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr4:175749600-175751200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr4:175749600-175751200	Active TSS	Fetal Brain Male	brain
11	chr4:175749600-175751200	Active TSS	Fetal Brain Female	brain
12	chr4:175749600-175751200	Active TSS	K562	blood
13	chr4:175749600-175751800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:175749800-175750800	Active TSS	Brain Substantia Nigra	brain
15	chr4:175749800-175751000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:175749800-175751200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr4:175749800-175751200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr4:175749800-175751200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:175749800-175751200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:175749800-175751200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:175749800-175751200	Active TSS	A549	lung
22	chr4:175749800-175751400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr4:175749800-175751400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr4:175749800-175751400	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr4:175750000-175750800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
26	chr4:175750000-175750800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:175750000-175751000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:175750000-175751000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:175750000-175751200	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr4:175750000-175751200	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr4:175750200-175750800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:175750200-175750800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:175750200-175750800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
34	chr4:175750200-175750800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:175750200-175750800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:175750200-175750800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr4:175750200-175750800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:175750200-175750800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr4:175750200-175750800	Active TSS	Colonic Mucosa	Colon
40	chr4:175750200-175750800	Active TSS	Duodenum Mucosa	Duodenum
41	chr4:175750200-175750800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
42	chr4:175750200-175750800	Enhancers	Esophagus	oesophagus
43	chr4:175750200-175750800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr4:175750200-175750800	Active TSS	Fetal Kidney	kidney
45	chr4:175750200-175750800	Enhancers	Fetal Muscle Trunk	muscle
46	chr4:175750200-175750800	Active TSS	Lung	lung
47	chr4:175750200-175750800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
48	chr4:175750200-175750800	Enhancers	Spleen	Spleen
49	chr4:175750200-175750800	Active TSS	HMEC	breast
50	chr4:175750200-175750800	Active TSS	HSMMtube	muscle

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