Variant report

Variant	rs11686757
Chromosome Location	chr2:20551409-20551410
allele	G/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	HDAC2	chr2:20549866-20551770	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:20549865-20551502	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr2:20550612-20551460	GM12891	blood:	n/a	n/a
5	ELF1	chr2:20549789-20551431	GM12878	blood:	n/a	chr2:20550275-20550287 chr2:20550093-20550105
6	POLR2A	chr2:20549768-20551450	K562	blood:	n/a	n/a
7	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
8	POLR2A	chr2:20549757-20551688	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:20549882-20551507	GM15510	blood:	n/a	n/a
10	NFIC	chr2:20549819-20551919	HepG2	liver:	n/a	n/a
11	PML	chr2:20549570-20552013	GM12878	blood:	n/a	n/a
12	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
13	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
14	BHLHE40	chr2:20550012-20551708	HepG2	liver:	n/a	chr2:20550359-20550375
15	POLR2A	chr2:20551407-20551417	GM12878	blood:	n/a	n/a
16	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
17	TAF1	chr2:20550507-20551499	H1-neurons	neurons:	n/a	n/a
18	CTCF	chr2:20551320-20551470	SK-N-SH_RA	brain:	n/a	n/a
19	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
20	TAF1	chr2:20549873-20551586	HepG2	liver:	n/a	n/a
21	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
22	RUNX3	chr2:20549671-20551704	GM12878	blood:	n/a	n/a
23	POLR2A	chr2:20549573-20551489	K562	blood:	n/a	n/a
24	MTA3	chr2:20549639-20551928	GM12878	blood:	n/a	n/a
25	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
26	SIN3A	chr2:20549325-20551540	H1-hESC	embryonic stem cell:	n/a	chr2:20550248-20550259 chr2:20551488-20551497 chr2:20551487-20551495
27	TBP	chr2:20549961-20551521	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr2:20549582-20551534	GM12892	blood:	n/a	n/a
29	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
30	POLR2A	chr2:20549855-20551649	HEK293	kidney:	n/a	n/a
31	SIN3AK20	chr2:20550539-20551663	HepG2	liver:	n/a	n/a
32	BRCA1	chr2:20550794-20551420	GM12878	blood:	n/a	n/a
33	FOXA1	chr2:20551330-20551625	T-47D	breast:	n/a	chr2:20551475-20551490
34	HDAC2	chr2:20550511-20551711	MCF-7	breast:	n/a	n/a
35	POLR2A	chr2:20549714-20551542	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAZ	chr2:20549905-20551609	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
37	HA-E2F1	chr2:20549703-20551675	MCF-7	breast:	n/a	chr2:20550124-20550131 chr2:20550124-20550131 chr2:20551300-20551314 chr2:20550994-20551003 chr2:20550858-20550867 chr2:20550738-20550747 chr2:20550700-20550711 chr2:20550316-20550323 chr2:20550124-20550131
38	POLR2A	chr2:20549688-20551629	GM12878	blood:	n/a	n/a
39	TAF1	chr2:20549718-20551549	H1-hESC	embryonic stem cell:	n/a	n/a
40	MYBL2	chr2:20550385-20551834	HepG2	liver:	n/a	n/a
41	POLR2A	chr2:20549733-20551472	GM12878	blood:	n/a	n/a
42	POLR2A	chr2:20549763-20551553	Hela-S3	cervix:	n/a	n/a
43	STAT5A	chr2:20549698-20551660	GM12878	blood:	n/a	chr2:20550649-20550661 chr2:20551296-20551307 chr2:20550597-20550609 chr2:20550604-20550616 chr2:20550791-20550803 chr2:20551322-20551334
44	REST	chr2:20550500-20551474	A549	lung:	n/a	chr2:20550584-20550597 chr2:20550778-20550791
45	TCF12	chr2:20549581-20551715	A549	lung:	n/a	chr2:20551480-20551489
46	POLR2A	chr2:20550186-20551548	GM12878	blood:	n/a	n/a
47	ATF3	chr2:20550160-20551578	A549	lung:	n/a	chr2:20550992-20551001 chr2:20550620-20550629
48	FOXA2	chr2:20551115-20551735	A549	lung:	n/a	n/a
49	E2F6	chr2:20549970-20551598	Hela-S3	cervix:	n/a	chr2:20550123-20550131 chr2:20550124-20550131 chr2:20550124-20550131 chr2:20551300-20551314 chr2:20550994-20551003 chr2:20550858-20550867 chr2:20550738-20550747 chr2:20550316-20550323 chr2:20550124-20550131
50	MAX	chr2:20549450-20551581	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

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
ENSG00000055917	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000177981	Chromatin interaction
ENSG00000118960	Chromatin interaction
ENSG00000271991	Chromatin interaction
ENSG00000118961	Chromatin interaction
ENSG00000183891	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11685960	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34960190	0.84[EUR][1000 genomes]
rs4666298	0.83[EUR][1000 genomes]
rs4666380	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6531229	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6730690	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7589798	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

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:125 , 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	chr2:20548400-20551600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr2:20548600-20551600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:20548600-20551600	Active TSS	Ovary	ovary
5	chr2:20548600-20551800	Active TSS	Thymus	Thymus
6	chr2:20548800-20551600	Active TSS	Fetal Kidney	kidney
7	chr2:20548800-20551600	Active TSS	Psoas Muscle	Psoas
8	chr2:20549000-20552000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:20549200-20551800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:20549200-20551800	Active TSS	Aorta	Aorta
11	chr2:20549600-20551600	Active TSS	Esophagus	oesophagus
12	chr2:20550800-20551600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr2:20550800-20551600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:20550800-20551600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:20550800-20551600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr2:20550800-20551600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:20550800-20551600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr2:20550800-20551600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr2:20550800-20551600	Flanking Active TSS	Fetal Muscle Trunk	muscle
20	chr2:20550800-20551600	Flanking Active TSS	Placenta	Placenta
21	chr2:20550800-20551600	Flanking Active TSS	HMEC	breast
22	chr2:20550800-20551600	Flanking Active TSS	HUVEC	blood vessel
23	chr2:20550800-20551800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr2:20550800-20551800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:20550800-20551800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:20550800-20551800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:20550800-20551800	Flanking Active TSS	NH-A	brain
28	chr2:20550800-20552200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:20550800-20552200	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr2:20550800-20552800	Flanking Active TSS	Fetal Brain Male	brain
31	chr2:20551000-20551600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:20551000-20551600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr2:20551000-20551600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:20551000-20551600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:20551000-20551600	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr2:20551000-20551600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr2:20551000-20551600	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr2:20551000-20551600	Flanking Active TSS	Fetal Stomach	stomach
39	chr2:20551000-20551600	Flanking Active TSS	HSMM	muscle
40	chr2:20551000-20551600	Flanking Active TSS	HSMMtube	muscle
41	chr2:20551000-20551600	Flanking Active TSS	K562	blood
42	chr2:20551000-20551800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr2:20551000-20551800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr2:20551000-20551800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:20551000-20551800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:20551000-20551800	Flanking Active TSS	Liver	Liver
47	chr2:20551000-20551800	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr2:20551000-20551800	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr2:20551000-20551800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr2:20551000-20551800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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