Variant report

Variant	rs370573324
Chromosome Location	chr6:147829919-147829920
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	POLR2A	chr6:147829432-147829939	A549	lung:	n/a	n/a
2	SIN3A	chr6:147829475-147830078	H1-hESC	embryonic stem cell:	n/a	chr6:147829627-147829638
3	MAX	chr6:147829648-147830243	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr6:147829413-147830000	HCT-116	colon:	n/a	n/a
5	TBP	chr6:147829645-147830243	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr6:147829300-147829997	HUVEC	blood vessel:	n/a	n/a
7	TCF7L2	chr6:147829563-147830485	HCT-116	colon:	n/a	n/a
8	POLR2A	chr6:147829067-147830129	HUVEC	blood vessel:	n/a	n/a
9	EP300	chr6:147829520-147829960	H1-hESC	embryonic stem cell:	n/a	chr6:147829598-147829607 chr6:147829759-147829775 chr6:147829595-147829604 chr6:147829625-147829641 chr6:147829535-147829551 chr6:147829756-147829772
10	RAD21	chr6:147829116-147829982	IMR90	lung:	n/a	chr6:147829590-147829604
11	CTBP2	chr6:147829088-147830660	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr6:147829901-147830079	H1-hESC	embryonic stem cell:	n/a	n/a
13	TCF12	chr6:147829557-147830049	ECC-1	luminal epithelium:	n/a	n/a
14	KAP1	chr6:147829423-147831405	HEK293	kidney:	n/a	n/a
15	POLR2A	chr6:147828306-147830686	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr6:147828918-147830345	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr6:147829422-147829938	ECC-1	luminal epithelium:	n/a	n/a
18	UBTF	chr6:147829047-147830340	K562	blood:	n/a	n/a
19	CTCF	chr6:147829780-147829930	HUVEC	blood vessel:	n/a	n/a
20	SUZ12	chr6:147827959-147831279	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr6:147829714-147829926	A549	lung:	n/a	n/a
22	SIN3AK20	chr6:147829575-147830115	PFSK-1	brain:	n/a	n/a
23	MYC	chr6:147829487-147830063	MCF10A-Er-Src	breast:	n/a	n/a
24	GABPA	chr6:147829643-147829957	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr6:147829252-147830048	HEK293	kidney:	n/a	n/a
26	E2F4	chr6:147829352-147829955	MCF10A-Er-Src	breast:	n/a	chr6:147829600-147829610 chr6:147829794-147829803 chr6:147829765-147829775 chr6:147829594-147829604 chr6:147829631-147829641 chr6:147829352-147829361 chr6:147829597-147829607
27	POLR2A	chr6:147829360-147830108	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr6:147829581-147830137	SK-N-MC	brain:	n/a	n/a
29	MAZ	chr6:147829229-147829949	K562	blood:	n/a	chr6:147829253-147829263
30	TAF1	chr6:147829512-147830012	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr6:147829256-147829963	HUVEC	blood vessel:	n/a	n/a
32	EGR1	chr6:147829555-147829920	K562	blood:	n/a	chr6:147829730-147829740 chr6:147829729-147829742 chr6:147829728-147829743 chr6:147829729-147829742
33	REST	chr6:147829705-147830009	PFSK-1	brain:	n/a	n/a
34	MAX	chr6:147828978-147830269	A549	lung:	n/a	chr6:147829253-147829263
35	POLR2A	chr6:147829416-147829936	MCF10A-Er-Src	breast:	n/a	n/a
36	MAX	chr6:147829564-147830268	A549	lung:	n/a	n/a
37	MAZ	chr6:147829387-147830039	IMR90	lung:	n/a	n/a
38	POLR2A	chr6:147829019-147830108	HUVEC	blood vessel:	n/a	n/a
39	REST	chr6:147828307-147830557	H1-neurons	neurons:	n/a	chr6:147829102-147829115 chr6:147829031-147829044 chr6:147830032-147830040
40	POLR2A	chr6:147829401-147831506	GM18951	blood:	n/a	n/a
41	POLR2A	chr6:147829435-147830051	MCF10A-Er-Src	breast:	n/a	n/a
42	MAX	chr6:147829005-147830247	ECC-1	luminal epithelium:	n/a	chr6:147829253-147829263
43	MAX	chr6:147829338-147830154	K562	blood:	n/a	n/a
44	POLR2A	chr6:147829408-147830026	HCT-116	colon:	n/a	n/a
45	TAF1	chr6:147829501-147830006	ECC-1	luminal epithelium:	n/a	n/a
46	ZNF263	chr6:147827811-147831448	HEK293-T-REx	kidney:	n/a	n/a
47	POLR2A	chr6:147829337-147830031	Gliobla	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:147829913-147829963	GM12892	blood:	n/a
2	chr6:147829913-147829963	T-47D	breast:	n/a
3	chr6:147829913-147829963	BJ	skin:	n/a
4	chr6:147829913-147829963	GM12878	blood:	n/a
5	chr6:147829913-147829963	AG09309	skin:	n/a
6	chr6:147829913-147829963	MCF-7	breast:	n/a
7	chr6:147829913-147829963	K562	blood:	n/a
8	chr6:147829913-147829963	Hela-S3	cervix:	n/a
9	chr6:147829913-147829963	MCF10A-Er-Src	breast:	n/a
10	chr6:147829913-147829963	HAEpiC	amniotic membrane:	n/a
11	chr6:147829913-147829963	BE2_C	brain:	n/a
12	chr6:147829913-147829963	AG09319	gingival:	n/a
13	chr6:147829913-147829963	SKMC	muscle:	n/a
14	chr6:147829913-147829963	HPAEpiC	pulmonary alveolar:	n/a
15	chr6:147829913-147829963	SK-N-SH_RA	brain:	n/a
16	chr6:147829913-147829963	H1-hESC	embryonic stem cell:	embryo
17	chr6:147829913-147829963	AoSMC	blood vessel:	n/a
18	chr6:147829913-147829963	HCT-116	colon:	n/a
19	chr6:147829913-147829963	HUVEC	blood vessel:	n/a
20	chr6:147829913-147829963	U87	brain:	n/a
21	chr6:147829913-147829963	Caco-2	colon:	n/a
22	chr6:147829913-147829963	HMEC	breast:	n/a
23	chr6:147829913-147829963	HepG2	liver:	n/a
24	chr6:147829913-147829963	GM06990	blood:	n/a
25	chr6:147829913-147829963	IMR90	lung:	fetal
26	chr6:147829913-147829963	HIPEpiC	eye:	n/a
27	chr6:147829913-147829963	SK-N-MC	brain:	n/a
28	chr6:147829913-147829963	ECC-1	luminal epithelium:	n/a
29	chr6:147829913-147829963	PrEC	prostate:	n/a
30	chr6:147829913-147829963	HL-60	blood:	n/a
31	chr6:147829913-147829963	HNPCEpiC	eye:	n/a
32	chr6:147829913-147829963	NT2-D1	testis:	n/a
33	chr6:147829913-147829963	NHBE	bronchial:	n/a
34	chr6:147829913-147829963	ProgFib	skin:	n/a
35	chr6:147829913-147829963	HCM	heart:	n/a
36	chr6:147829913-147829963	HRE	kidney:	n/a
37	chr6:147829913-147829963	CMK	blood:	n/a
38	chr6:147829913-147829963	HRPEpiC	eye:	n/a
39	chr6:147829913-147829963	PANC-1	pancreas:	n/a
40	chr6:147829913-147829963	LNCaP	prostate:	n/a
41	chr6:147829913-147829963	SK-N-SH	brain:	n/a
42	chr6:147829913-147829963	HEK293	kidney:	embryo
43	chr6:147829913-147829963	AG04449	skin:	fetal
44	chr6:147829913-147829963	HRCEpiC	kidney:	n/a
45	chr6:147829913-147829963	A549	lung:	n/a
46	chr6:147829913-147829963	HEEpiC	esophagus:	n/a
47	chr6:147829913-147829963	AG10803	skin:	n/a
48	chr6:147829913-147829963	HCPEpiC	choroid plexus:	n/a
49	chr6:147829913-147829963	NB4	blood:	n/a
50	chr6:147829913-147829963	HCF	heart:	n/a

Variant related genes	Relation type
SAMD5	TF binding region
SAMD5	CpG island

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3336787	chr6:147829109-147831307	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147827800-147830200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:147827800-147830800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr6:147827800-147831800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr6:147827800-147834000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr6:147828000-147830200	Flanking Active TSS	Liver	Liver
6	chr6:147828000-147830400	Active TSS	A549	lung
7	chr6:147828000-147830800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr6:147828000-147831000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:147828000-147831200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr6:147828000-147831200	Active TSS	Aorta	Aorta
11	chr6:147828200-147830000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:147828200-147830000	Active TSS	Small Intestine	intestine
13	chr6:147828200-147830600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr6:147828400-147830200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:147828400-147830200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:147828400-147830400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:147828400-147830400	Active TSS	Gastric	stomach
18	chr6:147828400-147831200	Active TSS	Right Atrium	heart
19	chr6:147828400-147832400	Active TSS	Fetal Kidney	kidney
20	chr6:147828600-147830200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:147828600-147830400	Active TSS	NHDF-Ad	bronchial
22	chr6:147828600-147830600	Active TSS	Fetal Lung	lung
23	chr6:147828600-147830800	Active TSS	Brain Angular Gyrus	brain
24	chr6:147828600-147831000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr6:147828600-147831600	Active TSS	HSMM	muscle
26	chr6:147828600-147832000	Active TSS	Fetal Intestine Large	intestine
27	chr6:147828600-147832000	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr6:147828600-147832200	Active TSS	HSMMtube	muscle
29	chr6:147828800-147830000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:147828800-147830000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:147828800-147830000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:147828800-147830000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:147828800-147830000	Active TSS	Right Ventricle	heart
34	chr6:147828800-147830200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:147828800-147830200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
36	chr6:147828800-147830400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:147828800-147830400	Bivalent/Poised TSS	Fetal Stomach	stomach
38	chr6:147828800-147830400	Active TSS	Ovary	ovary
39	chr6:147828800-147830400	Bivalent/Poised TSS	Thymus	Thymus
40	chr6:147828800-147830400	Active TSS	HUVEC	blood vessel
41	chr6:147828800-147830400	Active TSS	NH-A	brain
42	chr6:147828800-147830600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:147828800-147830600	Active TSS	Brain Substantia Nigra	brain
44	chr6:147828800-147830600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr6:147828800-147830600	Active TSS	NHLF	lung
46	chr6:147828800-147830800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr6:147828800-147830800	Active TSS	Esophagus	oesophagus
48	chr6:147828800-147830800	Active TSS	Left Ventricle	heart
49	chr6:147828800-147830800	Bivalent/Poised TSS	Osteobl	bone
50	chr6:147828800-147831000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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