Variant report

Variant	rs555062315
Chromosome Location	chr6:147830007-147830008
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	SIN3A	chr6:147829475-147830078	H1-hESC	embryonic stem cell:	n/a	chr6:147829627-147829638
2	MAX	chr6:147829648-147830243	ECC-1	luminal epithelium:	n/a	n/a
3	TBP	chr6:147829645-147830243	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF7L2	chr6:147829563-147830485	HCT-116	colon:	n/a	n/a
5	POLR2A	chr6:147829067-147830129	HUVEC	blood vessel:	n/a	n/a
6	CTBP2	chr6:147829088-147830660	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr6:147829901-147830079	H1-hESC	embryonic stem cell:	n/a	n/a
8	TCF12	chr6:147829557-147830049	ECC-1	luminal epithelium:	n/a	n/a
9	KAP1	chr6:147829423-147831405	HEK293	kidney:	n/a	n/a
10	POLR2A	chr6:147828306-147830686	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr6:147828918-147830345	H1-neurons	neurons:	n/a	n/a
12	UBTF	chr6:147829047-147830340	K562	blood:	n/a	n/a
13	SUZ12	chr6:147827959-147831279	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3AK20	chr6:147829575-147830115	PFSK-1	brain:	n/a	n/a
15	MYC	chr6:147829487-147830063	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr6:147829252-147830048	HEK293	kidney:	n/a	n/a
17	POLR2A	chr6:147829360-147830108	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr6:147829581-147830137	SK-N-MC	brain:	n/a	n/a
19	TAF1	chr6:147829512-147830012	PFSK-1	brain:	n/a	n/a
20	REST	chr6:147829705-147830009	PFSK-1	brain:	n/a	n/a
21	MAX	chr6:147828978-147830269	A549	lung:	n/a	chr6:147829253-147829263
22	MAX	chr6:147829564-147830268	A549	lung:	n/a	n/a
23	MAZ	chr6:147829387-147830039	IMR90	lung:	n/a	n/a
24	POLR2A	chr6:147829019-147830108	HUVEC	blood vessel:	n/a	n/a
25	REST	chr6:147828307-147830557	H1-neurons	neurons:	n/a	chr6:147829102-147829115 chr6:147829031-147829044 chr6:147830032-147830040
26	POLR2A	chr6:147829401-147831506	GM18951	blood:	n/a	n/a
27	POLR2A	chr6:147829435-147830051	MCF10A-Er-Src	breast:	n/a	n/a
28	MAX	chr6:147829005-147830247	ECC-1	luminal epithelium:	n/a	chr6:147829253-147829263
29	MAX	chr6:147829338-147830154	K562	blood:	n/a	n/a
30	POLR2A	chr6:147829408-147830026	HCT-116	colon:	n/a	n/a
31	ZNF263	chr6:147827811-147831448	HEK293-T-REx	kidney:	n/a	n/a
32	POLR2A	chr6:147829337-147830031	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
SAMD5	TF binding region

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:117 , 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	chr6:147828200-147830600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr6:147828400-147830200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:147828400-147830200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:147828400-147830400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:147828400-147830400	Active TSS	Gastric	stomach
16	chr6:147828400-147831200	Active TSS	Right Atrium	heart
17	chr6:147828400-147832400	Active TSS	Fetal Kidney	kidney
18	chr6:147828600-147830200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:147828600-147830400	Active TSS	NHDF-Ad	bronchial
20	chr6:147828600-147830600	Active TSS	Fetal Lung	lung
21	chr6:147828600-147830800	Active TSS	Brain Angular Gyrus	brain
22	chr6:147828600-147831000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr6:147828600-147831600	Active TSS	HSMM	muscle
24	chr6:147828600-147832000	Active TSS	Fetal Intestine Large	intestine
25	chr6:147828600-147832000	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr6:147828600-147832200	Active TSS	HSMMtube	muscle
27	chr6:147828800-147830200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:147828800-147830200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
29	chr6:147828800-147830400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:147828800-147830400	Bivalent/Poised TSS	Fetal Stomach	stomach
31	chr6:147828800-147830400	Active TSS	Ovary	ovary
32	chr6:147828800-147830400	Bivalent/Poised TSS	Thymus	Thymus
33	chr6:147828800-147830400	Active TSS	HUVEC	blood vessel
34	chr6:147828800-147830400	Active TSS	NH-A	brain
35	chr6:147828800-147830600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:147828800-147830600	Active TSS	Brain Substantia Nigra	brain
37	chr6:147828800-147830600	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr6:147828800-147830600	Active TSS	NHLF	lung
39	chr6:147828800-147830800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr6:147828800-147830800	Active TSS	Esophagus	oesophagus
41	chr6:147828800-147830800	Active TSS	Left Ventricle	heart
42	chr6:147828800-147830800	Bivalent/Poised TSS	Osteobl	bone
43	chr6:147828800-147831000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:147828800-147831000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr6:147828800-147831000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:147828800-147831200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr6:147828800-147831200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr6:147828800-147831400	Active TSS	Duodenum Mucosa	Duodenum
49	chr6:147828800-147831400	Active TSS	Rectal Smooth Muscle	rectum
50	chr6:147828800-147831600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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