Variant report

Variant	rs533554764
Chromosome Location	chr6:146350042-146350043
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	REST	chr6:146348933-146350158	ECC-1	luminal epithelium:	n/a	chr6:146349530-146349548 chr6:146349534-146349543 chr6:146349529-146349549 chr6:146349529-146349549 chr6:146349535-146349549
2	REST	chr6:146348890-146350188	ECC-1	luminal epithelium:	n/a	chr6:146349530-146349548 chr6:146349534-146349543 chr6:146349529-146349549 chr6:146349529-146349549 chr6:146349535-146349549
3	REST	chr6:146348585-146350546	PFSK-1	brain:	n/a	chr6:146349530-146349548 chr6:146349534-146349543 chr6:146349529-146349549 chr6:146349529-146349549 chr6:146349535-146349549
4	REST	chr6:146348713-146350338	PFSK-1	brain:	n/a	chr6:146349530-146349548 chr6:146349534-146349543 chr6:146349529-146349549 chr6:146349529-146349549 chr6:146349535-146349549
5	REST	chr6:146348994-146350236	PANC-1	pancreas:	n/a	chr6:146349530-146349548 chr6:146349534-146349543 chr6:146349529-146349549 chr6:146349529-146349549 chr6:146349535-146349549
6	CTCF	chr6:146350040-146350190	WERI-Rb-1	eye:	n/a	n/a
7	REST	chr6:146348600-146350478	PFSK-1	brain:	n/a	chr6:146349530-146349548 chr6:146349534-146349543 chr6:146349529-146349549 chr6:146349529-146349549 chr6:146349535-146349549
8	REST	chr6:146349078-146350057	HepG2	liver:	n/a	chr6:146349530-146349548 chr6:146349534-146349543 chr6:146349529-146349549 chr6:146349529-146349549 chr6:146349535-146349549
9	REST	chr6:146348915-146350110	MCF-7	breast:	n/a	chr6:146349530-146349548 chr6:146349534-146349543 chr6:146349529-146349549 chr6:146349529-146349549 chr6:146349535-146349549
10	REST	chr6:146348456-146350610	HL-60	blood:	n/a	chr6:146349530-146349548 chr6:146349534-146349543 chr6:146349529-146349549 chr6:146349529-146349549 chr6:146349535-146349549
11	REST	chr6:146349958-146350245	K562	blood:	n/a	n/a
12	CTCF	chr6:146350040-146350190	SK-N-SH_RA	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:146350041-146350091	AG09319	gingival:	n/a
2	chr6:146350041-146350091	CMK	blood:	n/a
3	chr6:146350041-146350091	HCM	heart:	n/a
4	chr6:146350041-146350091	T-47D	breast:	n/a
5	chr6:146350041-146350091	HIPEpiC	eye:	n/a
6	chr6:146350041-146350091	AoSMC	blood vessel:	n/a
7	chr6:146350041-146350091	GM12891	blood:	n/a
8	chr6:146350041-146350091	NHBE	bronchial:	n/a
9	chr6:146350041-146350091	BJ	skin:	n/a
10	chr6:146350041-146350091	HPAEpiC	pulmonary alveolar:	n/a
11	chr6:146350041-146350091	HRE	kidney:	n/a
12	chr6:146350041-146350091	ECC-1	luminal epithelium:	n/a
13	chr6:146350041-146350091	Hela-S3	cervix:	n/a
14	chr6:146350041-146350091	AG10803	skin:	n/a
15	chr6:146350041-146350091	RPTEC	kidney:	n/a
16	chr6:146350041-146350091	PANC-1	pancreas:	n/a
17	chr6:146350041-146350091	H1-hESC	embryonic stem cell:	embryo
18	chr6:146350041-146350091	IMR90	lung:	fetal
19	chr6:146350041-146350091	HAEpiC	amniotic membrane:	n/a
20	chr6:146350041-146350091	HRCEpiC	kidney:	n/a
21	chr6:146350041-146350091	K562	blood:	n/a
22	chr6:146350041-146350091	HMEC	breast:	n/a
23	chr6:146350041-146350091	HEEpiC	esophagus:	n/a
24	chr6:146350041-146350091	HCT-116	colon:	n/a
25	chr6:146350041-146350091	HepG2	liver:	n/a
26	chr6:146350041-146350091	Hepatocyte	liver:	n/a
27	chr6:146350041-146350091	GM12892	blood:	n/a
28	chr6:146350041-146350091	NB4	blood:	n/a
29	chr6:146350041-146350091	HUVEC	blood vessel:	n/a
30	chr6:146350041-146350091	A549	lung:	n/a
31	chr6:146350041-146350091	SK-N-SH_RA	brain:	n/a
32	chr6:146350041-146350091	PrEC	prostate:	n/a
33	chr6:146350041-146350091	GM12878	blood:	n/a
34	chr6:146350041-146350091	HCF	heart:	n/a
35	chr6:146350041-146350091	SK-N-MC	brain:	n/a
36	chr6:146350041-146350091	ovcar-3	ovarian:	n/a
37	chr6:146350041-146350091	Jurkat	blood:	n/a
38	chr6:146350041-146350091	SKMC	muscle:	n/a
39	chr6:146350041-146350091	NH-A	brain:	n/a
40	chr6:146350041-146350091	HNPCEpiC	eye:	n/a
41	chr6:146350041-146350091	HL-60	blood:	n/a
42	chr6:146350041-146350091	HEK293	kidney:	embryo
43	chr6:146350041-146350091	NHDF-neo	bronchial:	n/a
44	chr6:146350041-146350091	AG04450	lung:	fetal
45	chr6:146350041-146350091	U87	brain:	n/a
46	chr6:146350041-146350091	AG04449	skin:	fetal
47	chr6:146350041-146350091	GM19239	blood:	n/a
48	chr6:146350041-146350091	NT2-D1	testis:	n/a
49	chr6:146350041-146350091	HCPEpiC	choroid plexus:	n/a
50	chr6:146350041-146350091	MCF-7	breast:	n/a

Variant related genes	Relation type
GRM1	TF binding region
GRM1	CpG island

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv604839	chr6:146305810-146828922	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1029440	chr6:146349442-146407453	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146348400-146351400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr6:146348600-146351200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
3	chr6:146348600-146351200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:146348600-146351400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:146348600-146351400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr6:146348600-146351600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr6:146348600-146351600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:146348800-146350200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr6:146348800-146350200	Bivalent/Poised TSS	Fetal Brain Female	brain
10	chr6:146348800-146350400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:146348800-146350800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr6:146348800-146351200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
13	chr6:146348800-146351400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr6:146349000-146350400	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr6:146349000-146351800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
16	chr6:146349200-146350600	ZNF genes & repeats	Spleen	Spleen
17	chr6:146349400-146350600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:146349600-146350200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
19	chr6:146349600-146350200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:146349600-146350200	Bivalent/Poised TSS	HSMMtube	muscle
21	chr6:146349600-146350200	Bivalent/Poised TSS	NH-A	brain
22	chr6:146349600-146350600	ZNF genes & repeats	Right Atrium	heart
23	chr6:146349600-146350800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:146349800-146350200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:146349800-146350200	Bivalent Enhancer	HMEC	breast
26	chr6:146349800-146350400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:146349800-146350600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:146349800-146350600	Bivalent Enhancer	Brain Substantia Nigra	brain
29	chr6:146349800-146350600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr6:146349800-146350600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr6:146349800-146350800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr6:146349800-146351400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr6:146349800-146351400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
34	chr6:146350000-146350200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:146350000-146350200	Bivalent Enhancer	Fetal Brain Male	brain
36	chr6:146350000-146350200	Flanking Active TSS	Pancreas	Pancrea
37	chr6:146350000-146350400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:146350000-146350400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
39	chr6:146350000-146350600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:146350000-146350600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
41	chr6:146350000-146351000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:146350000-146351000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:146350000-146351800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain

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