Variant report

Variant	rs57937756
Chromosome Location	chr2:74211530-74211531
allele	A/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	POLR2A	chr2:74210765-74213232	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:74211225-74213109	NB4	blood:	n/a	n/a
3	ELF1	chr2:74211485-74211921	K562	blood:	n/a	chr2:74211652-74211665 chr2:74211729-74211741 chr2:74211841-74211853
4	TAF1	chr2:74210498-74211836	ECC-1	luminal epithelium:	n/a	n/a
5	CEBPD	chr2:74211462-74212420	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:74211329-74212784	A549	lung:	n/a	n/a
7	STAT1	chr2:74211321-74212004	GM12878	blood:	n/a	n/a
8	FOXM1	chr2:74210662-74211759	MCF-7	breast:	n/a	n/a
9	MAX	chr2:74211310-74212262	HepG2	liver:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74211332-74211342 chr2:74212007-74212018 chr2:74212007-74212018
10	POLR2A	chr2:74211177-74212821	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:74210578-74212297	GM12892	blood:	n/a	n/a
12	PML	chr2:74210348-74212317	GM12878	blood:	n/a	n/a
13	TCF7L2	chr2:74210640-74212797	HCT-116	colon:	n/a	n/a
14	POLR2A	chr2:74210759-74213608	GM19193	blood:	n/a	n/a
15	POLR2A	chr2:74211241-74212713	HepG2	liver:	n/a	n/a
16	E2F6	chr2:74211128-74212223	H1-hESC	embryonic stem cell:	n/a	chr2:74212028-74212040 chr2:74212028-74212037
17	EP300	chr2:74210555-74211719	ECC-1	luminal epithelium:	n/a	chr2:74210842-74210858 chr2:74211646-74211659 chr2:74211611-74211620
18	POLR2A	chr2:74210769-74211905	HepG2	liver:	n/a	n/a
19	MAX	chr2:74211320-74212297	NB4	blood:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74211332-74211342 chr2:74212007-74212018 chr2:74212007-74212018
20	MYBL2	chr2:74210438-74211583	HepG2	liver:	n/a	n/a
21	EP300	chr2:74210516-74212461	ECC-1	luminal epithelium:	n/a	chr2:74212012-74212028 chr2:74211731-74211747 chr2:74210842-74210858 chr2:74211646-74211659 chr2:74211611-74211620
22	MYC	chr2:74211237-74212388	MCF-7	breast:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74211332-74211342 chr2:74212007-74212018 chr2:74212007-74212018
23	MAX	chr2:74210469-74212298	MCF-7	breast:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74211332-74211342 chr2:74211170-74211180 chr2:74212007-74212018 chr2:74212007-74212018
24	E2F6	chr2:74210614-74212293	H1-hESC	embryonic stem cell:	n/a	chr2:74212028-74212040 chr2:74212028-74212037
25	YY1	chr2:74211493-74211783	K562	blood:	n/a	chr2:74211727-74211738 chr2:74211608-74211622 chr2:74211730-74211744
26	MAZ	chr2:74211184-74212266	HepG2	liver:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74211332-74211342 chr2:74212007-74212018 chr2:74212007-74212018
27	PAX5	chr2:74211230-74212201	GM12892	blood:	n/a	chr2:74211656-74211665 chr2:74211433-74211450 chr2:74211431-74211449
28	CCNT2	chr2:74211347-74213049	K562	blood:	n/a	chr2:74211893-74211902 chr2:74212839-74212848 chr2:74212028-74212037
29	UBTF	chr2:74211458-74211849	K562	blood:	n/a	n/a
30	RUNX3	chr2:74210799-74212154	GM12878	blood:	n/a	n/a
31	ZBTB7A	chr2:74211306-74211675	HepG2	liver:	n/a	n/a
32	HNF4A	chr2:74211284-74211620	HepG2	liver:	n/a	n/a
33	NR3C1	chr2:74211269-74212479	A549	lung:	n/a	chr2:74211663-74211676
34	POLR2A	chr2:74208051-74212199	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr2:74210597-74212385	MCF-7	breast:	n/a	n/a
36	MBD4	chr2:74210485-74211632	HepG2	liver:	n/a	n/a
37	TCF3	chr2:74211328-74212300	GM12878	blood:	n/a	chr2:74211559-74211572 chr2:74211823-74211839
38	RUNX3	chr2:74211485-74212161	GM12878	blood:	n/a	n/a
39	POLR2A	chr2:74211370-74211721	HepG2	liver:	n/a	n/a
40	ZNF263	chr2:74210542-74211636	HEK293-T-REx	kidney:	n/a	n/a
41	RAD21	chr2:74210421-74211753	ECC-1	luminal epithelium:	n/a	chr2:74211604-74211618 chr2:74211730-74211743 chr2:74211603-74211622 chr2:74211558-74211572
42	YY1	chr2:74211341-74212219	GM12892	blood:	n/a	chr2:74211727-74211738 chr2:74211841-74211852 chr2:74211608-74211622 chr2:74212028-74212037 chr2:74211730-74211744
43	POLR2A	chr2:74211265-74213546	GM18526	blood:	n/a	n/a
44	HA-E2F1	chr2:74211482-74213149	Hela-S3	cervix:	n/a	chr2:74212028-74212040 chr2:74212028-74212037
45	BHLHE40	chr2:74211363-74212283	K562	blood:	n/a	chr2:74212008-74212017 chr2:74211727-74211743 chr2:74211730-74211746 chr2:74211733-74211749 chr2:74211738-74211754 chr2:74212008-74212017
46	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
47	POLR2A	chr2:74210733-74212841	A549	lung:	n/a	n/a
48	CTCF	chr2:74211520-74211670	GM12872	blood:	n/a	chr2:74211602-74211620 chr2:74211605-74211618
49	MYC	chr2:74211477-74212318	K562	blood:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74212007-74212018 chr2:74212007-74212018
50	POLR2A	chr2:74210667-74212281	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:74055188..74061210-chr2:74210942..74215230,5	K562	blood:
2	chr2:74194837..74202788-chr2:74203103..74212249,15	K562	blood:
3	chr2:74210880..74212548-chr2:74372314..74375193,2	K562	blood:
4	chr2:74210581..74214263-chr2:74424560..74427104,3	K562	blood:
5	chr2:74210903..74212994-chr2:74431667..74434283,2	MCF-7	breast:
6	chr2:74210880..74213761-chr2:74373693..74375989,3	K562	blood:
7	chr2:74187365..74198553-chr2:74205167..74212961,17	MCF-7	breast:
8	chr11:133905199..133907855-chr2:74210970..74213610,2	MCF-7	breast:
9	chr2:74211217..74213609-chr2:74345958..74348496,2	MCF-7	breast:
10	chr2:74052797..74060455-chr2:74207744..74214705,21	MCF-7	breast:
11	chr2:74151695..74161558-chr2:74205273..74215127,19	K562	blood:
12	chr2:74210159..74214364-chr2:74424247..74427320,6	MCF-7	breast:
13	chr2:74209442..74213118-chr2:74372270..74377274,6	MCF-7	breast:
14	chr2:74006477..74008068-chr2:74209603..74212198,2	MCF-7	breast:
15	chr2:74151187..74158039-chr2:74203173..74216266,29	MCF-7	breast:
16	chr2:74209964..74211607-chr2:74281437..74283507,2	K562	blood:
17	chr11:8709045..8711792-chr2:74211303..74213379,2	MCF-7	breast:
18	chr2:74210080..74211906-chr2:74412687..74415534,2	MCF-7	breast:
19	chr2:74209535..74211828-chr2:97552282..97555129,2	MCF-7	breast:
20	chr2:74152462..74158334-chr2:74210550..74216243,8	K562	blood:
21	chr14:75746098..75746964-chr2:74211481..74212299,2	Hela-S3	cervix:
22	chr2:74210101..74212862-chr2:74733390..74736109,2	K562	blood:
23	chr2:74071679..74074362-chr2:74210863..74213464,2	K562	blood:
24	chr2:74171083..74173536-chr2:74209389..74211761,2	K562	blood:
25	chr2:74055452..74058450-chr2:74210942..74214913,3	K562	blood:
26	chr2:74209118..74215634-chr2:74424964..74427991,9	MCF-7	breast:
27	chr2:74175475..74176994-chr2:74209729..74212006,2	MCF-7	breast:
28	chr12:122235984..122238947-chr2:74211072..74214040,3	MCF-7	breast:
29	chr2:74209066..74214459-chr2:74345671..74349502,5	K562	blood:
30	chr2:74147649..74157677-chr2:74203379..74217813,34	MCF-7	breast:
31	chr2:74055755..74057848-chr2:74210321..74213795,3	MCF-7	breast:
32	chr2:74210601..74212361-chr2:74374459..74376721,2	MCF-7	breast:
33	chr2:70312056..70313801-chr2:74209899..74211567,2	MCF-7	breast:
34	chr2:74211059..74212577-chr2:74271171..74274101,2	MCF-7	breast:
35	chr2:74209017..74213063-chr2:74345530..74349441,7	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BOLA3-4	chr2:74211337-74211790	NONHSAT071648

Variant related genes	Relation type
ENSG00000255989	TF binding region
ENSG00000235499	TF binding region
DGUOK-AS1	TF binding region
ENSG00000225439	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000187605	Chromatin interaction
ENSG00000201876	Chromatin interaction
ENSG00000254648	Chromatin interaction
ENSG00000179818	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000115289	Chromatin interaction
ENSG00000204241	Chromatin interaction
ENSG00000144048	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000170345	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74210200-74211600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr2:74210400-74211600	Flanking Active TSS	HMEC	breast
3	chr2:74210400-74211800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr2:74210400-74211800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:74210600-74211600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:74210600-74211600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:74210600-74211600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr2:74210600-74211600	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr2:74210600-74211600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr2:74210600-74211600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr2:74210600-74211600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:74210600-74211600	Enhancers	Fetal Brain Male	brain
13	chr2:74210600-74211600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
14	chr2:74210600-74211800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:74210600-74211800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr2:74210600-74211800	Flanking Active TSS	Colonic Mucosa	Colon
17	chr2:74210600-74211800	Active TSS	Fetal Kidney	kidney
18	chr2:74210600-74211800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr2:74210600-74212000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:74210600-74213000	Active TSS	H9 Cell Line	embryonic stem cell
21	chr2:74210800-74211600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:74210800-74211600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:74210800-74211600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr2:74210800-74211600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr2:74210800-74211600	Flanking Active TSS	Placenta	Placenta
26	chr2:74210800-74211600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr2:74210800-74211600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr2:74210800-74211600	Flanking Active TSS	A549	lung
29	chr2:74210800-74211600	Flanking Active TSS	Hela-S3	cervix
30	chr2:74210800-74211600	Flanking Active TSS	K562	blood
31	chr2:74210800-74211800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr2:74210800-74211800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr2:74210800-74211800	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr2:74210800-74211800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr2:74210800-74211800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr2:74210800-74211800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr2:74210800-74211800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr2:74210800-74211800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr2:74210800-74211800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr2:74210800-74211800	Flanking Active TSS	HUVEC	blood vessel
41	chr2:74210800-74212000	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr2:74210800-74212800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:74210800-74213000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:74210800-74213000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:74210800-74213000	Active TSS	Colon Smooth Muscle	Colon
46	chr2:74210800-74213000	Active TSS	Gastric	stomach
47	chr2:74210800-74213000	Active TSS	Rectal Smooth Muscle	rectum
48	chr2:74211000-74211600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:74211000-74211600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:74211000-74211600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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