Variant report

Variant	rs551437913
Chromosome Location	chr3:154797520-154797521
allele	A/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	POLR2A	chr3:154797513-154798272	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr3:154797426-154798307	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr3:154797505-154798984	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr3:154797463-154798344	MCF10A-Er-Src	breast:	n/a	n/a
5	PBX3	chr3:154796810-154798333	SK-N-SH	brain:	n/a	chr3:154797735-154797744
6	BACH1	chr3:154797474-154798778	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3AK20	chr3:154797476-154798283	SK-N-SH	brain:	n/a	n/a
8	MAX	chr3:154797352-154798231	SK-N-SH	brain:	n/a	chr3:154798073-154798081
9	POLR2A	chr3:154797287-154798230	ProgFib	skin:	n/a	n/a
10	POLR2A	chr3:154797426-154797781	HUVEC	blood vessel:	n/a	n/a
11	TEAD4	chr3:154796984-154798252	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr3:154797453-154797945	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr3:154796309-154799404	SK-N-SH	brain:	n/a	n/a
14	SIN3A	chr3:154797495-154798311	H1-hESC	embryonic stem cell:	n/a	chr3:154797754-154797765
15	MAX	chr3:154797402-154798219	H1-hESC	embryonic stem cell:	n/a	chr3:154798073-154798081
16	CTBP2	chr3:154797512-154798221	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr3:154796370-154798315	Raji	blood:	n/a	n/a
18	EP300	chr3:154797065-154798444	SK-N-SH	brain:	n/a	chr3:154798003-154798019 chr3:154798232-154798246 chr3:154798229-154798243 chr3:154797392-154797408 chr3:154797900-154797916
19	POLR2A	chr3:154797364-154798145	U87	brain:	n/a	n/a
20	E2F6	chr3:154797409-154797715	K562	blood:	n/a	n/a
21	UBTF	chr3:154797478-154798269	K562	blood:	n/a	n/a
22	POLR2A	chr3:154797436-154798032	Gliobla	brain:	n/a	n/a
23	MAZ	chr3:154797333-154798189	K562	blood:	n/a	chr3:154798073-154798081
24	TAF1	chr3:154797426-154798275	H1-hESC	embryonic stem cell:	n/a	n/a
25	HMGN3	chr3:154797495-154798057	K562	blood:	n/a	n/a
26	RAD21	chr3:154796901-154798184	H1-hESC	embryonic stem cell:	n/a	chr3:154797713-154797725 chr3:154797640-154797654
27	MAX	chr3:154796686-154798269	SK-N-SH	brain:	n/a	chr3:154798073-154798081
28	TAF1	chr3:154796825-154798316	SK-N-SH	brain:	n/a	n/a
29	RAD21	chr3:154797446-154798252	H1-hESC	embryonic stem cell:	n/a	chr3:154797713-154797725 chr3:154797640-154797654
30	POLR2A	chr3:154797358-154798151	U87	brain:	n/a	n/a
31	POLR2A	chr3:154795817-154801378	SK-N-SH	brain:	n/a	n/a
32	HDAC2	chr3:154797494-154798322	H1-hESC	embryonic stem cell:	n/a	chr3:154798229-154798243 chr3:154798233-154798247 chr3:154798227-154798241 chr3:154797938-154797946 chr3:154798230-154798244 chr3:154798225-154798239
33	RCOR1	chr3:154797467-154798544	K562	blood:	n/a	n/a
34	RAD21	chr3:154796708-154798288	IMR90	lung:	n/a	chr3:154797713-154797725 chr3:154797640-154797654

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:154797508-154797558	PFSK-1	brain:	n/a
2	chr3:154797508-154797558	LNCaP	prostate:	n/a
3	chr3:154797508-154797558	CMK	blood:	n/a
4	chr3:154797508-154797558	HRPEpiC	eye:	n/a
5	chr3:154797508-154797558	SKMC	muscle:	n/a
6	chr3:154797508-154797558	GM12878	blood:	n/a
7	chr3:154797508-154797558	HMEC	breast:	n/a
8	chr3:154797508-154797558	Jurkat	blood:	n/a
9	chr3:154797508-154797558	HAEpiC	amniotic membrane:	n/a
10	chr3:154797508-154797558	SAEC	small airway:	n/a
11	chr3:154797508-154797558	NT2-D1	testis:	n/a
12	chr3:154797508-154797558	GM06990	blood:	n/a
13	chr3:154797508-154797558	BJ	skin:	n/a
14	chr3:154797508-154797558	AG10803	skin:	n/a
15	chr3:154797508-154797558	AoSMC	blood vessel:	n/a
16	chr3:154797508-154797558	AG09309	skin:	n/a
17	chr3:154797508-154797558	HNPCEpiC	eye:	n/a
18	chr3:154797508-154797558	HCM	heart:	n/a
19	chr3:154797508-154797558	HIPEpiC	eye:	n/a
20	chr3:154797508-154797558	RPTEC	kidney:	n/a
21	chr3:154797508-154797558	GM19239	blood:	n/a
22	chr3:154797508-154797558	ProgFib	skin:	n/a
23	chr3:154797508-154797558	BE2_C	brain:	n/a
24	chr3:154797508-154797558	SK-N-SH_RA	brain:	n/a
25	chr3:154797508-154797558	HepG2	liver:	n/a
26	chr3:154797508-154797558	K562	blood:	n/a
27	chr3:154797508-154797558	MCF10A-Er-Src	breast:	n/a
28	chr3:154797508-154797558	NB4	blood:	n/a
29	chr3:154797508-154797558	PANC-1	pancreas:	n/a
30	chr3:154797508-154797558	AG09319	gingival:	n/a
31	chr3:154797508-154797558	NH-A	brain:	n/a
32	chr3:154797508-154797558	ovcar-3	ovarian:	n/a
33	chr3:154797508-154797558	HCPEpiC	choroid plexus:	n/a
34	chr3:154797508-154797558	SK-N-SH	brain:	n/a
35	chr3:154797508-154797558	Hepatocyte	liver:	n/a
36	chr3:154797508-154797558	T-47D	breast:	n/a
37	chr3:154797508-154797558	IMR90	lung:	fetal
38	chr3:154797508-154797558	HEEpiC	esophagus:	n/a
39	chr3:154797508-154797558	AG04449	skin:	fetal
40	chr3:154797508-154797558	U87	brain:	n/a
41	chr3:154797508-154797558	AG04450	lung:	fetal
42	chr3:154797508-154797558	NHBE	bronchial:	n/a
43	chr3:154797508-154797558	Caco-2	colon:	n/a
44	chr3:154797508-154797558	NHDF-neo	bronchial:	n/a
45	chr3:154797508-154797558	HL-60	blood:	n/a
46	chr3:154797508-154797558	HRE	kidney:	n/a
47	chr3:154797508-154797558	HCT-116	colon:	n/a
48	chr3:154797508-154797558	GM12892	blood:	n/a
49	chr3:154797508-154797558	H1-hESC	embryonic stem cell:	embryo
50	chr3:154797508-154797558	HPAEpiC	pulmonary alveolar:	n/a

Variant related genes	Relation type
MME	TF binding region
MME	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868930	chr3:154076125-154820242	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1000140	chr3:154336261-154905740	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv534289	chr3:154535584-154987166	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv532663	chr3:154561578-154960353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv999994	chr3:154579254-155175303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv532664	chr3:154588346-155162615	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv963491	chr3:154795648-154803797	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3325286	chr3:154796483-154799031	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:154796000-154802200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:154796200-154799600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr3:154796200-154799600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:154796400-154799000	Active TSS	Placenta Amnion	Placenta Amnion
5	chr3:154796400-154799200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr3:154796400-154800000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:154796400-154800000	Active TSS	NHLF	lung
8	chr3:154796600-154797600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:154796600-154797600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
10	chr3:154796600-154797600	Active TSS	Right Ventricle	heart
11	chr3:154796600-154797800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr3:154796600-154797800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
13	chr3:154796600-154798000	Active TSS	Rectal Smooth Muscle	rectum
14	chr3:154796600-154798200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:154796600-154798400	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr3:154796600-154798400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:154796600-154798400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
18	chr3:154796600-154798600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr3:154796600-154798600	Active TSS	Thymus	Thymus
20	chr3:154796600-154798600	Active TSS	HSMM	muscle
21	chr3:154796600-154798800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr3:154796600-154798800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:154796600-154798800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:154796600-154798800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:154796600-154798800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:154796600-154799000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:154796600-154799000	Active TSS	H9 Cell Line	embryonic stem cell
28	chr3:154796600-154799000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:154796600-154799000	Active TSS	Placenta	Placenta
30	chr3:154796600-154799200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:154796600-154800000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:154796600-154800200	Active TSS	Psoas Muscle	Psoas
33	chr3:154796600-154800600	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr3:154796600-154802000	Active TSS	Duodenum Mucosa	Duodenum
35	chr3:154796800-154797600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
36	chr3:154796800-154797800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:154796800-154798400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
38	chr3:154796800-154798600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:154796800-154798600	Bivalent/Poised TSS	Fetal Brain Female	brain
40	chr3:154796800-154798600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
41	chr3:154796800-154798800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
42	chr3:154796800-154798800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
43	chr3:154796800-154798800	Bivalent/Poised TSS	NH-A	brain
44	chr3:154796800-154799400	Active TSS	NHDF-Ad	bronchial
45	chr3:154796800-154799600	Active TSS	Muscle Satellite Cultured Cells	--
46	chr3:154796800-154801200	Active TSS	Fetal Kidney	kidney
47	chr3:154797000-154797600	Bivalent/Poised TSS	Colonic Mucosa	Colon
48	chr3:154797000-154797600	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
49	chr3:154797000-154797800	Active TSS	Aorta	Aorta
50	chr3:154797000-154797800	Active TSS	Brain Substantia Nigra	brain

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