Variant report

Variant	rs569221179
Chromosome Location	chr3:51741517-51741518
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	REST	chr3:51740438-51741739	H1-neurons	neurons:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740897-51740906
2	E2F6	chr3:51740850-51741682	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr3:51740410-51741624	PFSK-1	brain:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740897-51740906
4	MXI1	chr3:51740630-51741603	IMR90	lung:	n/a	n/a
5	TBP	chr3:51740818-51741572	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr3:51740204-51741740	PFSK-1	brain:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740250-51740259 chr3:51740897-51740906
7	REST	chr3:51739816-51741537	SK-N-SH	brain:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740250-51740259 chr3:51740897-51740906
8	MAX	chr3:51740794-51741623	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr3:51740063-51741723	PFSK-1	brain:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740250-51740259 chr3:51740897-51740906
10	POLR2A	chr3:51740788-51741608	H1-neurons	neurons:	n/a	n/a
11	REST	chr3:51740070-51741651	H1-hESC	embryonic stem cell:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740250-51740259 chr3:51740897-51740906
12	E2F6	chr3:51740935-51741594	H1-hESC	embryonic stem cell:	n/a	n/a
13	MXI1	chr3:51739763-51741816	SK-N-SH	brain:	n/a	n/a
14	REST	chr3:51740479-51741583	MCF-7	breast:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740897-51740906
15	MAX	chr3:51740747-51741521	H1-hESC	embryonic stem cell:	n/a	chr3:51740769-51740778
16	HA-E2F1	chr3:51741112-51741530	MCF-7	breast:	n/a	n/a
17	ELF1	chr3:51741295-51741706	GM12878	blood:	n/a	n/a
18	SIN3A	chr3:51740712-51741626	H1-hESC	embryonic stem cell:	n/a	chr3:51740900-51740909

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:51741473-51741523	NHBE	bronchial:	n/a
2	chr3:51741473-51741523	MCF-7	breast:	n/a
3	chr3:51741473-51741523	HAEpiC	amniotic membrane:	n/a
4	chr3:51741473-51741523	K562	blood:	n/a
5	chr3:51741473-51741523	Caco-2	colon:	n/a
6	chr3:51741473-51741523	AG04449	skin:	fetal
7	chr3:51741473-51741523	NH-A	brain:	n/a
8	chr3:51741473-51741523	H1-hESC	embryonic stem cell:	embryo
9	chr3:51741473-51741523	NHDF-neo	bronchial:	n/a
10	chr3:51741473-51741523	GM06990	blood:	n/a
11	chr3:51741473-51741523	HCT-116	colon:	n/a
12	chr3:51741473-51741523	A549	lung:	n/a
13	chr3:51741473-51741523	RPTEC	kidney:	n/a
14	chr3:51741473-51741523	LNCaP	prostate:	n/a
15	chr3:51741473-51741523	HRCEpiC	kidney:	n/a
16	chr3:51741473-51741523	AG04450	lung:	fetal
17	chr3:51741473-51741523	HRE	kidney:	n/a
18	chr3:51741473-51741523	SK-N-SH_RA	brain:	n/a
19	chr3:51741473-51741523	HepG2	liver:	n/a
20	chr3:51741473-51741523	PrEC	prostate:	n/a
21	chr3:51741473-51741523	AoSMC	blood vessel:	n/a
22	chr3:51741473-51741523	AG09319	gingival:	n/a
23	chr3:51741473-51741523	HCF	heart:	n/a
24	chr3:51741473-51741523	T-47D	breast:	n/a
25	chr3:51741473-51741523	NT2-D1	testis:	n/a
26	chr3:51741473-51741523	HUVEC	blood vessel:	n/a
27	chr3:51741473-51741523	Hela-S3	cervix:	n/a
28	chr3:51741473-51741523	HIPEpiC	eye:	n/a
29	chr3:51741473-51741523	ECC-1	luminal epithelium:	n/a
30	chr3:51741473-51741523	SKMC	muscle:	n/a
31	chr3:51741473-51741523	AG10803	skin:	n/a
32	chr3:51741473-51741523	SK-N-SH	brain:	n/a
33	chr3:51741473-51741523	HCPEpiC	choroid plexus:	n/a
34	chr3:51741473-51741523	AG09309	skin:	n/a
35	chr3:51741473-51741523	HNPCEpiC	eye:	n/a
36	chr3:51741473-51741523	CMK	blood:	n/a
37	chr3:51741473-51741523	Jurkat	blood:	n/a
38	chr3:51741473-51741523	ovcar-3	ovarian:	n/a
39	chr3:51741473-51741523	SK-N-MC	brain:	n/a
40	chr3:51741473-51741523	MCF10A-Er-Src	breast:	n/a
41	chr3:51741473-51741523	GM12891	blood:	n/a
42	chr3:51741473-51741523	SAEC	small airway:	n/a
43	chr3:51741473-51741523	IMR90	lung:	fetal
44	chr3:51741473-51741523	HCM	heart:	n/a
45	chr3:51741473-51741523	HL-60	blood:	n/a
46	chr3:51741473-51741523	HEEpiC	esophagus:	n/a
47	chr3:51741473-51741523	NB4	blood:	n/a
48	chr3:51741473-51741523	GM12892	blood:	n/a
49	chr3:51741473-51741523	HPAEpiC	pulmonary alveolar:	n/a
50	chr3:51741473-51741523	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:51739711..51741988-chr3:51976226..51978640,2	K562	blood:

Variant related genes	Relation type
GRM2	TF binding region
GRM2	CpG island
ENSG00000041880	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	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv1814919	chr3:51703488-51752684	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3403870	chr3:51740262-51741860	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51734600-51741600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:51738400-51743400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:51739400-51743400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr3:51739600-51743600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:51740000-51741600	Weak transcription	Aorta	Aorta
6	chr3:51740000-51744200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr3:51740200-51746200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:51740200-51755400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:51740400-51742000	Enhancers	Spleen	Spleen
10	chr3:51740400-51742800	Weak transcription	Dnd41	blood
11	chr3:51740600-51741600	Active TSS	Fetal Brain Female	brain
12	chr3:51740600-51741600	Enhancers	Lung	lung
13	chr3:51740600-51752800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:51740800-51746600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:51741000-51741600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr3:51741000-51741600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:51741000-51741600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr3:51741000-51741600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr3:51741000-51741600	Active TSS	Stomach Smooth Muscle	stomach
20	chr3:51741000-51741800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr3:51741000-51741800	Enhancers	Brain Anterior Caudate	brain
22	chr3:51741000-51742000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr3:51741000-51742200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr3:51741200-51741600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr3:51741200-51741600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr3:51741200-51741600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr3:51741200-51741600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:51741200-51741600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:51741200-51741600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:51741200-51741600	Enhancers	Adipose Nuclei	Adipose
31	chr3:51741200-51741600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr3:51741200-51741600	Enhancers	Brain Substantia Nigra	brain
33	chr3:51741200-51741600	Enhancers	Colon Smooth Muscle	Colon
34	chr3:51741200-51741600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
35	chr3:51741200-51741600	Enhancers	Esophagus	oesophagus
36	chr3:51741200-51741600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr3:51741200-51741600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr3:51741200-51741600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr3:51741200-51741600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
40	chr3:51741200-51741600	Active TSS	Gastric	stomach
41	chr3:51741200-51741600	Enhancers	Left Ventricle	heart
42	chr3:51741200-51741600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr3:51741200-51741600	Enhancers	Thymus	Thymus
44	chr3:51741200-51741600	Flanking Bivalent TSS/Enh	NH-A	brain
45	chr3:51741200-51741800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr3:51741200-51741800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr3:51741200-51741800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
48	chr3:51741200-51741800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr3:51741200-51741800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr3:51741200-51741800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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