Variant report

Variant	rs552377758
Chromosome Location	chr2:20551210-20551211
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	FOXA1	chr2:20551035-20551829	HepG2	liver:	n/a	chr2:20551475-20551490
2	CTCF	chr2:20551060-20551210	GM12871	blood:	n/a	n/a
3	HDAC2	chr2:20549866-20551770	HepG2	liver:	n/a	n/a
4	TAF1	chr2:20551027-20551321	GM12891	blood:	n/a	n/a
5	POLR2A	chr2:20549865-20551502	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr2:20551060-20551210	GM12866	blood:	n/a	n/a
7	POLR2A	chr2:20550612-20551460	GM12891	blood:	n/a	n/a
8	ELF1	chr2:20549789-20551431	GM12878	blood:	n/a	chr2:20550275-20550287 chr2:20550093-20550105
9	POLR2A	chr2:20549768-20551450	K562	blood:	n/a	n/a
10	MAX	chr2:20549178-20551690	NB4	blood:	n/a	chr2:20550901-20550910 chr2:20550763-20550772 chr2:20549687-20549694 chr2:20550764-20550771 chr2:20550761-20550772 chr2:20550795-20550805 chr2:20550083-20550092 chr2:20550608-20550618
11	E2F6	chr2:20550420-20551315	H1-hESC	embryonic stem cell:	n/a	chr2:20551300-20551314 chr2:20550994-20551003 chr2:20550858-20550867 chr2:20550738-20550747
12	POLR2A	chr2:20549757-20551688	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:20549882-20551507	GM15510	blood:	n/a	n/a
14	NFIC	chr2:20549819-20551919	HepG2	liver:	n/a	n/a
15	PML	chr2:20549570-20552013	GM12878	blood:	n/a	n/a
16	MYC	chr2:20549876-20551253	K562	blood:	n/a	chr2:20550901-20550910 chr2:20550763-20550772 chr2:20550764-20550771 chr2:20550761-20550772 chr2:20550795-20550805 chr2:20550083-20550092 chr2:20550608-20550618
17	MAX	chr2:20549773-20551571	HCT-116	colon:	n/a	chr2:20550901-20550910 chr2:20550763-20550772 chr2:20550764-20550771 chr2:20550761-20550772 chr2:20550795-20550805 chr2:20550083-20550092 chr2:20550608-20550618
18	MXI1	chr2:20550573-20551327	K562	blood:	n/a	n/a
19	MAX	chr2:20549845-20551694	HepG2	liver:	n/a	chr2:20550901-20550910 chr2:20550763-20550772 chr2:20550764-20550771 chr2:20550761-20550772 chr2:20550795-20550805 chr2:20550083-20550092 chr2:20550608-20550618
20	BHLHE40	chr2:20550012-20551708	HepG2	liver:	n/a	chr2:20550359-20550375
21	EGR1	chr2:20549869-20551227	K562	blood:	n/a	chr2:20550609-20550619 chr2:20550738-20550747 chr2:20550990-20550999
22	MYC	chr2:20548541-20551934	A549	lung:	n/a	chr2:20550901-20550910 chr2:20550763-20550772 chr2:20549687-20549694 chr2:20550764-20550771 chr2:20550761-20550772 chr2:20550795-20550805 chr2:20550083-20550092 chr2:20550608-20550618
23	TAF1	chr2:20550478-20551357	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:20550160-20551406	GM12878	blood:	n/a	n/a
25	TAF1	chr2:20551045-20551336	GM12892	blood:	n/a	n/a
26	TAF1	chr2:20550507-20551499	H1-neurons	neurons:	n/a	n/a
27	CTCF	chr2:20551060-20551210	GM12874	blood:	n/a	n/a
28	POLR2A	chr2:20549968-20551333	MCF-7	breast:	n/a	n/a
29	MYC	chr2:20549298-20551497	K562	blood:	n/a	chr2:20550901-20550910 chr2:20550763-20550772 chr2:20549687-20549694 chr2:20550764-20550771 chr2:20550761-20550772 chr2:20550795-20550805 chr2:20550083-20550092 chr2:20550608-20550618
30	TAF1	chr2:20549873-20551586	HepG2	liver:	n/a	n/a
31	SP1	chr2:20549831-20551646	A549	lung:	n/a	chr2:20550180-20550192 chr2:20550647-20550656 chr2:20550795-20550809 chr2:20550180-20550192 chr2:20550796-20550805 chr2:20550085-20550095 chr2:20550599-20550611 chr2:20550607-20550619 chr2:20550608-20550618 chr2:20550182-20550191 chr2:20550607-20550619 chr2:20550609-20550618 chr2:20550600-20550614 chr2:20550181-20550191 chr2:20550601-20550610 chr2:20550608-20550617 chr2:20550181-20550195
32	CTCF	chr2:20551100-20551250	GM12873	blood:	n/a	n/a
33	TCF3	chr2:20550629-20551346	GM12878	blood:	n/a	chr2:20551184-20551194 chr2:20551179-20551192
34	RUNX3	chr2:20549671-20551704	GM12878	blood:	n/a	n/a
35	POLR2A	chr2:20549573-20551489	K562	blood:	n/a	n/a
36	TBP	chr2:20550557-20551368	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr2:20551160-20551310	SAEC	small airway:	n/a	n/a
38	MXI1	chr2:20550629-20551229	H1-hESC	embryonic stem cell:	n/a	n/a
39	MTA3	chr2:20549639-20551928	GM12878	blood:	n/a	n/a
40	MYC	chr2:20549983-20551293	MCF-7	breast:	n/a	chr2:20550901-20550910 chr2:20550763-20550772 chr2:20550764-20550771 chr2:20550761-20550772 chr2:20550795-20550805 chr2:20550083-20550092 chr2:20550608-20550618
41	MAX	chr2:20549759-20551639	GM12878	blood:	n/a	chr2:20550901-20550910 chr2:20550763-20550772 chr2:20550764-20550771 chr2:20550761-20550772 chr2:20550795-20550805 chr2:20550083-20550092 chr2:20550608-20550618
42	SIN3A	chr2:20549325-20551540	H1-hESC	embryonic stem cell:	n/a	chr2:20550248-20550259 chr2:20551488-20551497 chr2:20551487-20551495
43	TBP	chr2:20549961-20551521	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr2:20549582-20551534	GM12892	blood:	n/a	n/a
45	MAZ	chr2:20549395-20551866	IMR90	lung:	n/a	chr2:20550901-20550910 chr2:20550763-20550772 chr2:20549687-20549694 chr2:20550764-20550771 chr2:20550761-20550772 chr2:20550795-20550805 chr2:20550083-20550092 chr2:20550608-20550618
46	POLR2A	chr2:20549959-20551291	U87	brain:	n/a	n/a
47	CTCF	chr2:20551191-20551217	GM13977	blood:	n/a	n/a
48	POLR2A	chr2:20549855-20551649	HEK293	kidney:	n/a	n/a
49	SIN3AK20	chr2:20550539-20551663	HepG2	liver:	n/a	n/a
50	BRCA1	chr2:20550794-20551420	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20550911..20553369-chr2:20646204..20648737,2	K562	blood:
2	chr2:20550750..20552615-chr2:21021758..21023805,2	K562	blood:
3	chr2:20525204..20529381-chr2:20546645..20551782,7	K562	blood:
4	chr2:20099437..20102980-chr2:20547960..20551663,4	K562	blood:
5	chr2:20551173..20551947-chr2:20578423..20578988,3	MCF-7	breast:
6	chr12:48572524..48575406-chr2:20550361..20552479,2	MCF-7	breast:
7	chr2:20549379..20553875-chr2:20644345..20648832,13	MCF-7	breast:
8	chr2:20526069..20526648-chr2:20550792..20551493,2	K562	blood:
9	chr2:20551173..20551919-chr2:20578436..20578988,2	MCF-7	breast:
10	chr2:20523318..20529381-chr2:20544822..20552572,11	K562	blood:
11	chr2:20548847..20552407-chr2:20645405..20649585,5	MCF-7	breast:
12	chr2:20549505..20552081-chr2:20849266..20851365,2	MCF-7	breast:

Variant related genes	Relation type
PUM2	TF binding region
ENSG00000177981	Chromatin interaction
ENSG00000055917	Chromatin interaction
ENSG00000271991	Chromatin interaction
ENSG00000118960	Chromatin interaction
ENSG00000183891	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000118961	Chromatin interaction

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	esv3423314	chr2:20549496-20552044	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 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	chr2:20547600-20551800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:20547800-20551400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:20548400-20551600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:20548600-20551400	Active TSS	Right Ventricle	heart
5	chr2:20548600-20551600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:20548600-20551600	Active TSS	Ovary	ovary
7	chr2:20548600-20551800	Active TSS	Thymus	Thymus
8	chr2:20548800-20551400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:20548800-20551400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:20548800-20551600	Active TSS	Fetal Kidney	kidney
11	chr2:20548800-20551600	Active TSS	Psoas Muscle	Psoas
12	chr2:20549000-20552000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:20549200-20551400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr2:20549200-20551400	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr2:20549200-20551400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:20549200-20551800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr2:20549200-20551800	Active TSS	Aorta	Aorta
18	chr2:20549400-20551400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:20549400-20551400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:20549400-20551400	Active TSS	Brain Angular Gyrus	brain
21	chr2:20549600-20551400	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr2:20549600-20551400	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr2:20549600-20551400	Active TSS	Small Intestine	intestine
24	chr2:20549600-20551400	Active TSS	Dnd41	blood
25	chr2:20549600-20551600	Active TSS	Esophagus	oesophagus
26	chr2:20549800-20551400	Active TSS	Gastric	stomach
27	chr2:20549800-20551400	Active TSS	Pancreas	Pancrea
28	chr2:20549800-20551400	Active TSS	Spleen	Spleen
29	chr2:20550800-20551600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr2:20550800-20551600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:20550800-20551600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:20550800-20551600	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr2:20550800-20551600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:20550800-20551600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr2:20550800-20551600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr2:20550800-20551600	Flanking Active TSS	Fetal Muscle Trunk	muscle
37	chr2:20550800-20551600	Flanking Active TSS	Placenta	Placenta
38	chr2:20550800-20551600	Flanking Active TSS	HMEC	breast
39	chr2:20550800-20551600	Flanking Active TSS	HUVEC	blood vessel
40	chr2:20550800-20551800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr2:20550800-20551800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:20550800-20551800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:20550800-20551800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:20550800-20551800	Flanking Active TSS	NH-A	brain
45	chr2:20550800-20552200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:20550800-20552200	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr2:20550800-20552800	Flanking Active TSS	Fetal Brain Male	brain
48	chr2:20551000-20551400	Flanking Active TSS	Colonic Mucosa	Colon
49	chr2:20551000-20551400	Flanking Active TSS	Left Ventricle	heart
50	chr2:20551000-20551400	Flanking Active TSS	Placenta Amnion	Placenta Amnion

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