Variant report

Variant	rs2272165
Chromosome Location	chr2:74213245-74213246
allele	A/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	NFIC	chr2:74212660-74213420	GM12878	blood:	n/a	n/a
2	ELF1	chr2:74212521-74213767	GM12878	blood:	n/a	chr2:74213031-74213044 chr2:74213032-74213043
3	RELA	chr2:74212520-74213435	GM12891	blood:	n/a	n/a
4	FOXM1	chr2:74212585-74213281	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:74210759-74213608	GM19193	blood:	n/a	n/a
6	POLR2A	chr2:74212671-74213623	GM12891	blood:	n/a	n/a
7	POLR2A	chr2:74212888-74213890	GM12891	blood:	n/a	n/a
8	SPI1	chr2:74212857-74213295	GM12891	blood:	n/a	chr2:74213082-74213095 chr2:74213082-74213095
9	MAFK	chr2:74213007-74213318	HepG2	liver:	n/a	n/a
10	GTF2F1	chr2:74212827-74213279	Hela-S3	cervix:	n/a	n/a
11	RELA	chr2:74212629-74213574	GM19193	blood:	n/a	n/a
12	SPI1	chr2:74212882-74213278	GM12878	blood:	n/a	chr2:74213082-74213095 chr2:74213082-74213095
13	POLR2A	chr2:74213171-74213256	GM12878	blood:	n/a	n/a
14	TCF12	chr2:74212552-74213365	A549	lung:	n/a	chr2:74212905-74212915
15	POLR2A	chr2:74212611-74213909	HL-60	blood:	n/a	n/a
16	POLR2A	chr2:74213237-74213336	H1-hESC	embryonic stem cell:	n/a	n/a
17	SPI1	chr2:74212901-74213339	HL-60	blood:	n/a	chr2:74213082-74213095 chr2:74213082-74213095
18	POLR2A	chr2:74211265-74213546	GM18526	blood:	n/a	n/a
19	MYC	chr2:74210151-74213343	A549	lung:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74211332-74211342 chr2:74211170-74211180 chr2:74213042-74213061 chr2:74212007-74212018 chr2:74212007-74212018
20	POLR2A	chr2:74211018-74213746	K562	blood:	n/a	n/a
21	RELA	chr2:74212610-74213283	GM15510	blood:	n/a	n/a
22	STAT5A	chr2:74212653-74213437	GM12878	blood:	n/a	chr2:74213026-74213034 chr2:74212841-74212853
23	SPI1	chr2:74212810-74213496	GM12878	blood:	n/a	chr2:74213082-74213095 chr2:74213082-74213095
24	POLR2A	chr2:74212597-74214324	GM12892	blood:	n/a	n/a
25	POLR2A	chr2:74210840-74213762	GM15510	blood:	n/a	n/a
26	HEY1	chr2:74212450-74213252	HepG2	liver:	n/a	n/a
27	POLR2A	chr2:74212660-74213769	GM12892	blood:	n/a	n/a
28	RCOR1	chr2:74212770-74213555	GM12878	blood:	n/a	n/a
29	POLR2A	chr2:74212594-74215561	GM12892	blood:	n/a	n/a
30	EBF1	chr2:74212540-74213728	GM12878	blood:	n/a	chr2:74212765-74212778 chr2:74212767-74212776 chr2:74212766-74212776 chr2:74212765-74212776 chr2:74212767-74212777
31	POLR2A	chr2:74210629-74213841	GM18505	blood:	n/a	n/a
32	MAZ	chr2:74211432-74213288	Hela-S3	cervix:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74213042-74213061 chr2:74212007-74212018 chr2:74212007-74212018
33	SIN3A	chr2:74212665-74213334	H1-hESC	embryonic stem cell:	n/a	chr2:74212901-74212912 chr2:74212947-74212956
34	MXI1	chr2:74212595-74213481	GM12878	blood:	n/a	n/a
35	PML	chr2:74212592-74213581	GM12878	blood:	n/a	n/a
36	RCOR1	chr2:74212814-74213280	K562	blood:	n/a	n/a
37	POLR2A	chr2:74212449-74215525	GM12878	blood:	n/a	n/a
38	POLR2A	chr2:74210568-74213842	K562	blood:	n/a	n/a
39	MAX	chr2:74212549-74213312	A549	lung:	n/a	chr2:74213042-74213061
40	POLR2A	chr2:74212694-74213370	HL-60	blood:	n/a	n/a
41	MYC	chr2:74212785-74213249	NB4	blood:	n/a	chr2:74213042-74213061
42	TBL1XR1	chr2:74212602-74213280	GM12878	blood:	n/a	n/a
43	TEAD4	chr2:74212841-74213307	K562	blood:	n/a	n/a
44	BHLHE40	chr2:74211343-74213300	GM12878	blood:	n/a	chr2:74212008-74212017 chr2:74211727-74211743 chr2:74211730-74211746 chr2:74211733-74211749 chr2:74211738-74211754 chr2:74212008-74212017
45	MAFK	chr2:74213022-74213269	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:74212643-74213828	SK-N-MC	brain:	n/a	n/a
47	MAFF	chr2:74213029-74213284	HepG2	liver:	n/a	n/a
48	MAX	chr2:74210513-74213323	HepG2	liver:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74211332-74211342 chr2:74211170-74211180 chr2:74213042-74213061 chr2:74212007-74212018 chr2:74212007-74212018
49	SIN3A	chr2:74212794-74213485	GM12878	blood:	n/a	chr2:74212901-74212912 chr2:74212947-74212956
50	BHLHE40	chr2:74212881-74213323	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:74055188..74061210-chr2:74210942..74215230,5	K562	blood:
2	chr2:74210581..74214263-chr2:74424560..74427104,3	K562	blood:
3	chr2:74210880..74213761-chr2:74373693..74375989,3	K562	blood:
4	chr11:133905199..133907855-chr2:74210970..74213610,2	MCF-7	breast:
5	chr2:74211217..74213609-chr2:74345958..74348496,2	MCF-7	breast:
6	chr2:74052797..74060455-chr2:74207744..74214705,21	MCF-7	breast:
7	chr2:74103145..74104933-chr2:74212158..74213816,2	K562	blood:
8	chr2:74151695..74161558-chr2:74205273..74215127,19	K562	blood:
9	chr2:74210159..74214364-chr2:74424247..74427320,6	MCF-7	breast:
10	chr2:74151187..74158039-chr2:74203173..74216266,29	MCF-7	breast:
11	chr2:74212585..74213417-chr20:30194830..30195536,2	Hela-S3	cervix:
12	chr11:8709045..8711792-chr2:74211303..74213379,2	MCF-7	breast:
13	chr2:74212004..74214263-chr2:74425033..74427104,2	K562	blood:
14	chr2:74152462..74158334-chr2:74210550..74216243,8	K562	blood:
15	chr2:74071679..74074362-chr2:74210863..74213464,2	K562	blood:
16	chr2:74055452..74058450-chr2:74210942..74214913,3	K562	blood:
17	chr2:74209118..74215634-chr2:74424964..74427991,9	MCF-7	breast:
18	chr12:122235984..122238947-chr2:74211072..74214040,3	MCF-7	breast:
19	chr2:74209066..74214459-chr2:74345671..74349502,5	K562	blood:
20	chr2:74147649..74157677-chr2:74203379..74217813,34	MCF-7	breast:
21	chr2:74055755..74057848-chr2:74210321..74213795,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TET3-2	chr2:74213107-74213470	XLOC_001531

Variant related genes	Relation type
ENSG00000255989	TF binding region
DGUOK-AS1	TF binding region
ENSG00000212694	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000254648	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000204241	Chromatin interaction
ENSG00000271536	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000163170	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10166873	0.93[AMR][1000 genomes]
rs10197238	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201998	0.83[EUR][1000 genomes]
rs10207365	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10207954	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208256	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496194	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903339	0.83[EUR][1000 genomes]
rs12328448	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28421442	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4852999	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6546883	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6714060	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv3444943	chr2:74210644-74214042	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv3391332	chr2:74211144-74213742	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv3389183	chr2:74211269-74213817	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv3405058	chr2:74211594-74213392	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74212600-74213400	Active TSS	Primary T cells from cord blood	blood
2	chr2:74212600-74213800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:74212600-74214000	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr2:74212600-74214400	Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr2:74212800-74213400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
6	chr2:74212800-74213400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr2:74212800-74213400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:74212800-74213400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr2:74212800-74213400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr2:74212800-74213400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:74212800-74213400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:74212800-74213400	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr2:74212800-74213400	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr2:74212800-74213400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr2:74212800-74213400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
16	chr2:74212800-74213400	Flanking Active TSS	Fetal Brain Female	brain
17	chr2:74212800-74213400	Flanking Active TSS	Fetal Heart	heart
18	chr2:74212800-74213400	Flanking Active TSS	Placenta	Placenta
19	chr2:74212800-74213400	Flanking Active TSS	Fetal Thymus	thymus
20	chr2:74212800-74213400	Flanking Active TSS	Left Ventricle	heart
21	chr2:74212800-74213400	Flanking Active TSS	Spleen	Spleen
22	chr2:74212800-74213400	Flanking Active TSS	HUVEC	blood vessel
23	chr2:74212800-74213400	Flanking Active TSS	K562	blood
24	chr2:74212800-74213600	Flanking Active TSS	Fetal Brain Male	brain
25	chr2:74212800-74213600	Flanking Active TSS	Fetal Intestine Large	intestine
26	chr2:74212800-74213600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr2:74212800-74213600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr2:74212800-74213800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:74212800-74213800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr2:74212800-74213800	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr2:74212800-74213800	Flanking Active TSS	Thymus	Thymus
32	chr2:74212800-74214000	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr2:74212800-74214000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:74212800-74214000	Flanking Active TSS	Colonic Mucosa	Colon
35	chr2:74212800-74214000	Active TSS	Fetal Kidney	kidney
36	chr2:74212800-74214000	Flanking Active TSS	Psoas Muscle	Psoas
37	chr2:74212800-74214200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr2:74212800-74214400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr2:74212800-74215000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:74212800-74215200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr2:74212800-74215200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr2:74212800-74215400	Flanking Active TSS	HepG2	liver
43	chr2:74212800-74215600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:74212800-74215600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:74212800-74215800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr2:74212800-74216000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr2:74213000-74213400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
48	chr2:74213000-74213400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:74213000-74213400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
50	chr2:74213000-74213400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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