Variant report

Variant	rs11891646
Chromosome Location	chr2:30669848-30669849
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	BHLHE40	chr2:30669830-30670750	GM12878	blood:	n/a	n/a
2	SIN3AK20	chr2:30669608-30670378	SK-N-SH	brain:	n/a	n/a
3	CHD2	chr2:30669431-30670872	K562	blood:	n/a	n/a
4	E2F6	chr2:30669629-30671093	A549	lung:	n/a	chr2:30670764-30670771 chr2:30670801-30670810 chr2:30670078-30670087 chr2:30670459-30670468
5	EP300	chr2:30669727-30670170	K562	blood:	n/a	chr2:30669795-30669809
6	RAD21	chr2:30669595-30670236	SK-N-SH_RA	brain:	n/a	n/a
7	POLR2A	chr2:30669796-30670300	HUVEC	blood vessel:	n/a	n/a
8	EGR1	chr2:30669665-30670912	HCT-116	colon:	n/a	chr2:30670522-30670535 chr2:30670298-30670308
9	E2F6	chr2:30669569-30671176	H1-hESC	embryonic stem cell:	n/a	chr2:30670764-30670771 chr2:30670801-30670810 chr2:30670078-30670087 chr2:30670459-30670468
10	MYBL2	chr2:30669676-30670376	HepG2	liver:	n/a	n/a
11	MTA3	chr2:30669473-30670927	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:30669456-30671063	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr2:30669803-30670920	H1-hESC	embryonic stem cell:	n/a	n/a
14	PML	chr2:30669602-30670932	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:30669813-30670399	HepG2	liver:	n/a	n/a
16	CREB1	chr2:30669826-30670465	ECC-1	luminal epithelium:	n/a	n/a
17	HEY1	chr2:30669798-30670878	K562	blood:	n/a	chr2:30670007-30670022
18	MAX	chr2:30669769-30671037	H1-hESC	embryonic stem cell:	n/a	chr2:30670299-30670309 chr2:30670684-30670700 chr2:30670693-30670702 chr2:30670694-30670701
19	POLR2A	chr2:30669740-30670642	GM18951	blood:	n/a	n/a
20	POLR2A	chr2:30669773-30670455	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr2:30669800-30670436	GM12891	blood:	n/a	n/a
22	CREB1	chr2:30669684-30670977	HepG2	liver:	n/a	n/a
23	MAX	chr2:30669476-30671045	A549	lung:	n/a	chr2:30670299-30670309 chr2:30670684-30670700 chr2:30670693-30670702 chr2:30670694-30670701
24	BACH1	chr2:30669579-30670321	H1-hESC	embryonic stem cell:	n/a	n/a
25	RCOR1	chr2:30669788-30670233	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr2:30669787-30670313	GM12891	blood:	n/a	n/a
27	POLR2A	chr2:30669827-30670358	ProgFib	skin:	n/a	n/a
28	CCNT2	chr2:30669589-30670597	K562	blood:	n/a	n/a
29	MAX	chr2:30669742-30670871	MCF-7	breast:	n/a	chr2:30670299-30670309 chr2:30670684-30670700 chr2:30670693-30670702 chr2:30670694-30670701
30	POLR2A	chr2:30669612-30670916	GM18505	blood:	n/a	n/a
31	POLR2A	chr2:30669651-30670332	HUVEC	blood vessel:	n/a	n/a
32	MAX	chr2:30669723-30671094	HCT-116	colon:	n/a	chr2:30670299-30670309 chr2:30670684-30670700 chr2:30670693-30670702 chr2:30670694-30670701
33	POLR2A	chr2:30669742-30670507	HCT-116	colon:	n/a	n/a
34	STAT1	chr2:30669651-30670154	GM12878	blood:	n/a	n/a
35	STAT5A	chr2:30669730-30670154	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:30669764-30670547	ECC-1	luminal epithelium:	n/a	n/a
37	TCF3	chr2:30669843-30670579	GM12878	blood:	n/a	chr2:30670422-30670436
38	CEBPB	chr2:30669501-30670467	HepG2	liver:	n/a	chr2:30670079-30670087
39	POLR2A	chr2:30669840-30670301	GM12892	blood:	n/a	n/a
40	HA-E2F1	chr2:30669680-30670960	MCF-7	breast:	n/a	chr2:30670764-30670771 chr2:30670801-30670810 chr2:30670078-30670087 chr2:30670459-30670468
41	TAF1	chr2:30669684-30670790	A549	lung:	n/a	n/a
42	YY1	chr2:30669802-30670867	HepG2	liver:	n/a	chr2:30670512-30670526 chr2:30670295-30670309 chr2:30670290-30670300 chr2:30670290-30670300 chr2:30670296-30670307 chr2:30670278-30670300 chr2:30670295-30670304 chr2:30670288-30670300
43	SP1	chr2:30669679-30671106	A549	lung:	n/a	chr2:30670077-30670098
44	E2F6	chr2:30669823-30670892	K562	blood:	n/a	chr2:30670764-30670771 chr2:30670801-30670810 chr2:30670078-30670087 chr2:30670459-30670468
45	POLR2A	chr2:30669801-30670325	HEK293	kidney:	n/a	n/a
46	MAX	chr2:30669602-30671206	A549	lung:	n/a	chr2:30670299-30670309 chr2:30670684-30670700 chr2:30670693-30670702 chr2:30670694-30670701
47	RAD21	chr2:30669767-30670971	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr2:30669748-30671145	HepG2	liver:	n/a	chr2:30670299-30670309 chr2:30670684-30670700 chr2:30670693-30670702 chr2:30670694-30670701
49	POLR2A	chr2:30669827-30670830	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr2:30669800-30669950	HBMEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:30451969..30454604-chr2:30669311..30670906,2	K562	blood:
2	chr2:30662772..30665115-chr2:30666031..30669960,4	K562	blood:
3	chr2:30454671..30456447-chr2:30669328..30672295,2	K562	blood:
4	chr2:30369470..30372362-chr2:30669050..30670728,2	MCF-7	breast:

Variant related genes	Relation type
LCLAT1	TF binding region
ENSG00000119801	Chromatin interaction
ENSG00000213626	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17009714	0.81[AMR][1000 genomes]
rs17009740	0.87[AMR][1000 genomes]
rs6714611	0.87[AMR][1000 genomes]
rs6716154	0.87[AMR][1000 genomes]
rs7586675	0.82[AMR][1000 genomes]
rs7593659	0.82[AMR][1000 genomes]

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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr2:30669400-30670000	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr2:30669400-30670000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr2:30669400-30670000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:30669400-30670000	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr2:30669400-30670000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr2:30669400-30670000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr2:30669400-30670000	Flanking Bivalent TSS/Enh	HepG2	liver
8	chr2:30669400-30670000	Flanking Active TSS	HUVEC	blood vessel
9	chr2:30669400-30670000	Flanking Active TSS	NH-A	brain
10	chr2:30669400-30670000	Flanking Active TSS	NHLF	lung
11	chr2:30669400-30670200	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr2:30669400-30670400	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr2:30669400-30670400	Active TSS	Colonic Mucosa	Colon
14	chr2:30669400-30670600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr2:30669400-30670600	Active TSS	Fetal Brain Female	brain
16	chr2:30669400-30670600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr2:30669400-30670600	Active TSS	Right Atrium	heart
18	chr2:30669400-30670600	Active TSS	Stomach Mucosa	stomach
19	chr2:30669400-30670800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:30669400-30670800	Active TSS	Brain Angular Gyrus	brain
21	chr2:30669400-30670800	Active TSS	Duodenum Mucosa	Duodenum
22	chr2:30669400-30670800	Active TSS	Hela-S3	cervix
23	chr2:30669400-30671000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:30669400-30671200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr2:30669400-30671400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:30669400-30671400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:30669400-30671400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr2:30669400-30672000	Active TSS	Right Ventricle	heart
29	chr2:30669600-30670000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr2:30669600-30670000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr2:30669600-30670000	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr2:30669600-30670000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr2:30669600-30670000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr2:30669600-30670000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr2:30669600-30670000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:30669600-30670000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:30669600-30670000	Flanking Active TSS	Fetal Brain Male	brain
38	chr2:30669600-30670000	Flanking Active TSS	Fetal Stomach	stomach
39	chr2:30669600-30670000	Flanking Active TSS	Fetal Thymus	thymus
40	chr2:30669600-30670200	Active TSS	Placenta	Placenta
41	chr2:30669600-30670400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:30669600-30670400	Active TSS	Placenta Amnion	Placenta Amnion
43	chr2:30669600-30670400	Active TSS	HMEC	breast
44	chr2:30669600-30670600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:30669600-30670600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr2:30669600-30670600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:30669600-30670600	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr2:30669600-30670600	Active TSS	Muscle Satellite Cultured Cells	--
49	chr2:30669600-30670600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:30669600-30670600	Active TSS	Brain Substantia Nigra	brain

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