Variant report

Variant	rs556786509
Chromosome Location	chr1:211500160-211500161
allele	C/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	MAX	chr1:211499648-211500778	Hela-S3	cervix:	n/a	n/a
2	CCNT2	chr1:211499899-211500485	K562	blood:	n/a	n/a
3	MAZ	chr1:211499762-211501280	K562	blood:	n/a	chr1:211501187-211501197
4	POLR2A	chr1:211499364-211502137	GM12892	blood:	n/a	n/a
5	MTA3	chr1:211499362-211500172	GM12878	blood:	n/a	n/a
6	TAF1	chr1:211500035-211500424	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:211499701-211500440	PFSK-1	brain:	n/a	n/a
8	E2F6	chr1:211499823-211500599	K562	blood:	n/a	n/a
9	POLR2A	chr1:211499683-211500312	GM12891	blood:	n/a	n/a
10	POLR2A	chr1:211500057-211500353	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:211499627-211501668	GM12878	blood:	n/a	n/a
12	MAZ	chr1:211499643-211500683	Hela-S3	cervix:	n/a	n/a
13	USF1	chr1:211499824-211500462	H1-hESC	embryonic stem cell:	n/a	n/a
14	BHLHE40	chr1:211499587-211501280	K562	blood:	n/a	n/a
15	E2F6	chr1:211499687-211500666	K562	blood:	n/a	n/a
16	RCOR1	chr1:211499598-211501242	K562	blood:	n/a	n/a
17	E2F1	chr1:211499848-211500652	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr1:211499904-211500281	ProgFib	skin:	n/a	n/a
19	MAX	chr1:211499736-211500680	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:211499989-211500272	MCF-7	breast:	n/a	n/a
21	RUNX3	chr1:211499545-211501322	GM12878	blood:	n/a	n/a
22	E2F6	chr1:211499859-211500461	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr1:211499853-211500406	K562	blood:	n/a	n/a
24	TAF1	chr1:211500066-211500409	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr1:211500039-211500751	HepG2	liver:	n/a	n/a
26	MAX	chr1:211499608-211500786	K562	blood:	n/a	n/a
27	MAX	chr1:211499785-211500356	A549	lung:	n/a	n/a
28	POLR2A	chr1:211499580-211500401	Raji	blood:	n/a	n/a
29	POLR2A	chr1:211499905-211500313	A549	lung:	n/a	n/a
30	BHLHE40	chr1:211499770-211500243	HepG2	liver:	n/a	n/a
31	UBTF	chr1:211499918-211501003	K562	blood:	n/a	n/a
32	ZBTB7A	chr1:211499959-211500574	K562	blood:	n/a	n/a
33	ZNF263	chr1:211499571-211501204	HEK293-T-REx	kidney:	n/a	n/a
34	POLR2A	chr1:211500107-211500390	HCT-116	colon:	n/a	n/a
35	MYC	chr1:211499805-211500400	K562	blood:	n/a	n/a
36	POLR2A	chr1:211499601-211501246	H1-hESC	embryonic stem cell:	n/a	n/a
37	IRF1	chr1:211499871-211500525	K562	blood:	n/a	chr1:211500325-211500338 chr1:211500325-211500338 chr1:211500325-211500338 chr1:211500326-211500339 chr1:211500323-211500337 chr1:211500328-211500339 chr1:211500327-211500338 chr1:211500324-211500338 chr1:211500325-211500338
38	TBP	chr1:211499807-211500346	K562	blood:	n/a	n/a
39	TAF1	chr1:211500097-211500353	K562	blood:	n/a	n/a
40	MAX	chr1:211499701-211500410	MCF-7	breast:	n/a	n/a
41	POLR2A	chr1:211499883-211500321	A549	lung:	n/a	n/a
42	MAX	chr1:211499748-211500441	K562	blood:	n/a	n/a
43	YY1	chr1:211500005-211500806	GM12878	blood:	n/a	chr1:211500468-211500479
44	MAX	chr1:211499775-211500390	NB4	blood:	n/a	n/a
45	POLR2A	chr1:211499730-211500456	HUVEC	blood vessel:	n/a	n/a
46	TBP	chr1:211500028-211501169	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr1:211499743-211500400	Hela-S3	cervix:	n/a	n/a
48	MAX	chr1:211499732-211500465	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr1:211499559-211501436	GM18505	blood:	n/a	n/a
50	POLR2A	chr1:211499739-211500728	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:211499136..211502907-chr1:211554932..211557555,4	K562	blood:
2	chr1:211429664..211435180-chr1:211498779..211503937,6	K562	blood:
3	chr1:211429664..211434083-chr1:211498779..211503937,6	K562	blood:

Variant related genes	Relation type
TRAF5	TF binding region
ENSG00000117625	Chromatin interaction
ENSG00000153363	Chromatin interaction

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	esv3374121	chr1:211499154-211501702	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3347623	chr1:211499429-211501377	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211486400-211500200	Weak transcription	Small Intestine	intestine
2	chr1:211487200-211500200	Weak transcription	Spleen	Spleen
3	chr1:211499600-211500200	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr1:211499600-211500400	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr1:211499600-211500600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:211499600-211500600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:211499600-211500600	Bivalent/Poised TSS	Fetal Brain Male	brain
8	chr1:211499600-211500800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:211499600-211501000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:211499600-211501000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:211499600-211501000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:211499600-211501000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:211499600-211501000	Active TSS	Muscle Satellite Cultured Cells	--
14	chr1:211499600-211501000	Active TSS	NHLF	lung
15	chr1:211499600-211501200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr1:211499600-211501200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:211499600-211501200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:211499600-211501800	Active TSS	HSMM	muscle
19	chr1:211499600-211502200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:211499800-211500200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr1:211499800-211500200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:211499800-211500400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:211499800-211500400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr1:211499800-211500800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr1:211499800-211500800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:211499800-211500800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:211499800-211501000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:211499800-211501000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:211499800-211501000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:211499800-211501000	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr1:211499800-211501000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:211499800-211501000	Active TSS	Gastric	stomach
33	chr1:211499800-211501200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr1:211499800-211501200	Active TSS	Brain Cingulate Gyrus	brain
35	chr1:211499800-211501200	Active TSS	Brain Hippocampus Middle	brain
36	chr1:211499800-211501200	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr1:211499800-211501200	Active TSS	Ovary	ovary
38	chr1:211499800-211501200	Active TSS	Placenta Amnion	Placenta Amnion
39	chr1:211499800-211501400	Active TSS	Brain Substantia Nigra	brain
40	chr1:211499800-211501400	Active TSS	Colon Smooth Muscle	Colon
41	chr1:211499800-211501400	Active TSS	A549	lung
42	chr1:211499800-211501800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:211499800-211501800	Active TSS	Aorta	Aorta
44	chr1:211499800-211501800	Active TSS	HSMMtube	muscle
45	chr1:211500000-211500200	Active TSS	Primary hematopoietic stem cells	blood
46	chr1:211500000-211500200	Bivalent/Poised TSS	Dnd41	blood
47	chr1:211500000-211500400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:211500000-211500400	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
49	chr1:211500000-211500400	Active TSS	Primary B cells from cord blood	blood
50	chr1:211500000-211500400	Active TSS	Primary hematopoietic stem cells short term culture	blood

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