Variant report

Variant	rs548101937
Chromosome Location	chr2:74211889-74211890
allele	A/C
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	JUND	chr2:74211887-74212097	H1-hESC	embryonic stem cell:	n/a	chr2:74212027-74212036
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	BHLHE40	chr2:74211820-74212175	A549	lung:	n/a	chr2:74212008-74212017 chr2:74212008-74212017
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	CREB1	chr2:74211591-74211967	A549	lung:	n/a	n/a
13	PML	chr2:74210348-74212317	GM12878	blood:	n/a	n/a
14	MAX	chr2:74211578-74212441	SK-N-SH	brain:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74212007-74212018 chr2:74212007-74212018
15	TCF7L2	chr2:74210640-74212797	HCT-116	colon:	n/a	n/a
16	POLR2A	chr2:74210759-74213608	GM19193	blood:	n/a	n/a
17	POLR2A	chr2:74211241-74212713	HepG2	liver:	n/a	n/a
18	E2F6	chr2:74211128-74212223	H1-hESC	embryonic stem cell:	n/a	chr2:74212028-74212040 chr2:74212028-74212037
19	POLR2A	chr2:74210769-74211905	HepG2	liver:	n/a	n/a
20	MAX	chr2:74211320-74212297	NB4	blood:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74211332-74211342 chr2:74212007-74212018 chr2:74212007-74212018
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	POLR2A	chr2:74211545-74213099	HUVEC	blood vessel:	n/a	n/a
24	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
25	E2F6	chr2:74210614-74212293	H1-hESC	embryonic stem cell:	n/a	chr2:74212028-74212040 chr2:74212028-74212037
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	USF1	chr2:74211882-74212110	HepG2	liver:	n/a	chr2:74212008-74212017 chr2:74212008-74212017
30	RUNX3	chr2:74210799-74212154	GM12878	blood:	n/a	n/a
31	MYC	chr2:74211540-74212184	K562	blood:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74212007-74212018 chr2:74212007-74212018
32	NR3C1	chr2:74211269-74212479	A549	lung:	n/a	chr2:74211663-74211676
33	POLR2A	chr2:74208051-74212199	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr2:74211827-74212766	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr2:74210597-74212385	MCF-7	breast:	n/a	n/a
36	TCF3	chr2:74211328-74212300	GM12878	blood:	n/a	chr2:74211559-74211572 chr2:74211823-74211839
37	RUNX3	chr2:74211485-74212161	GM12878	blood:	n/a	n/a
38	MYC	chr2:74211610-74212180	K562	blood:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74212007-74212018 chr2:74212007-74212018
39	EGR1	chr2:74211665-74212084	GM12878	blood:	n/a	chr2:74211809-74211818 chr2:74212027-74212037 chr2:74211808-74211818 chr2:74211808-74211818 chr2:74211806-74211819 chr2:74211843-74211853 chr2:74211806-74211820
40	POLR2A	chr2:74211721-74212293	HCT-116	colon:	n/a	n/a
41	YY1	chr2:74211341-74212219	GM12892	blood:	n/a	chr2:74211727-74211738 chr2:74211841-74211852 chr2:74211608-74211622 chr2:74212028-74212037 chr2:74211730-74211744
42	MYC	chr2:74211623-74212186	GM12878	blood:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74212007-74212018 chr2:74212007-74212018
43	POLR2A	chr2:74211265-74213546	GM18526	blood:	n/a	n/a
44	RELA	chr2:74211593-74212154	GM19099	blood:	n/a	n/a
45	CHD2	chr2:74211583-74213231	Hela-S3	cervix:	n/a	chr2:74212029-74212039
46	E2F6	chr2:74211589-74212263	K562	blood:	n/a	chr2:74212028-74212040 chr2:74212028-74212037
47	HA-E2F1	chr2:74211482-74213149	Hela-S3	cervix:	n/a	chr2:74212028-74212040 chr2:74212028-74212037
48	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
49	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
50	POLR2A	chr2:74210733-74212841	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:74211845-74211895	GM12892	blood:	n/a
2	chr2:74211845-74211895	CMK	blood:	n/a
3	chr2:74211845-74211895	AG04449	skin:	fetal
4	chr2:74211845-74211895	NT2-D1	testis:	n/a
5	chr2:74211845-74211895	ECC-1	luminal epithelium:	n/a
6	chr2:74211845-74211895	GM12891	blood:	n/a
7	chr2:74211845-74211895	RPTEC	kidney:	n/a
8	chr2:74211845-74211895	Jurkat	blood:	n/a
9	chr2:74211845-74211895	U87	brain:	n/a
10	chr2:74211845-74211895	ProgFib	skin:	n/a
11	chr2:74211845-74211895	HMEC	breast:	n/a
12	chr2:74211845-74211895	AG09309	skin:	n/a
13	chr2:74211845-74211895	SK-N-SH	brain:	n/a
14	chr2:74211845-74211895	HNPCEpiC	eye:	n/a
15	chr2:74211845-74211895	HepG2	liver:	n/a
16	chr2:74211845-74211895	HIPEpiC	eye:	n/a
17	chr2:74211845-74211895	HCT-116	colon:	n/a
18	chr2:74211845-74211895	GM12878	blood:	n/a
19	chr2:74211845-74211895	BE2_C	brain:	n/a
20	chr2:74211845-74211895	SAEC	small airway:	n/a
21	chr2:74211845-74211895	HCM	heart:	n/a
22	chr2:74211845-74211895	Caco-2	colon:	n/a
23	chr2:74211845-74211895	NH-A	brain:	n/a
24	chr2:74211845-74211895	SK-N-MC	brain:	n/a
25	chr2:74211845-74211895	SKMC	muscle:	n/a
26	chr2:74211845-74211895	PrEC	prostate:	n/a
27	chr2:74211845-74211895	HCF	heart:	n/a
28	chr2:74211845-74211895	HRCEpiC	kidney:	n/a
29	chr2:74211845-74211895	T-47D	breast:	n/a
30	chr2:74211845-74211895	AoSMC	blood vessel:	n/a
31	chr2:74211845-74211895	HEK293	kidney:	embryo
32	chr2:74211845-74211895	HCPEpiC	choroid plexus:	n/a
33	chr2:74211845-74211895	NHBE	bronchial:	n/a
34	chr2:74211845-74211895	AG09319	gingival:	n/a
35	chr2:74211845-74211895	HPAEpiC	pulmonary alveolar:	n/a
36	chr2:74211845-74211895	GM06990	blood:	n/a
37	chr2:74211845-74211895	HEEpiC	esophagus:	n/a
38	chr2:74211845-74211895	LNCaP	prostate:	n/a
39	chr2:74211845-74211895	Hela-S3	cervix:	n/a
40	chr2:74211845-74211895	SK-N-SH_RA	brain:	n/a
41	chr2:74211845-74211895	MCF-7	breast:	n/a
42	chr2:74211845-74211895	A549	lung:	n/a
43	chr2:74211845-74211895	HUVEC	blood vessel:	n/a
44	chr2:74211845-74211895	AG04450	lung:	fetal
45	chr2:74211845-74211895	HAEpiC	amniotic membrane:	n/a
46	chr2:74211845-74211895	NHDF-neo	bronchial:	n/a
47	chr2:74211845-74211895	BJ	skin:	n/a
48	chr2:74211845-74211895	HRPEpiC	eye:	n/a
49	chr2:74211845-74211895	PANC-1	pancreas:	n/a
50	chr2:74211845-74211895	NB4	blood:	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	chr11:8709045..8711792-chr2:74211303..74213379,2	MCF-7	breast:
17	chr2:74210080..74211906-chr2:74412687..74415534,2	MCF-7	breast:
18	chr2:74152462..74158334-chr2:74210550..74216243,8	K562	blood:
19	chr14:75746098..75746964-chr2:74211481..74212299,2	Hela-S3	cervix:
20	chr2:74210101..74212862-chr2:74733390..74736109,2	K562	blood:
21	chr2:74071679..74074362-chr2:74210863..74213464,2	K562	blood:
22	chr2:74055452..74058450-chr2:74210942..74214913,3	K562	blood:
23	chr2:74209118..74215634-chr2:74424964..74427991,9	MCF-7	breast:
24	chr2:74175475..74176994-chr2:74209729..74212006,2	MCF-7	breast:
25	chr12:122235984..122238947-chr2:74211072..74214040,3	MCF-7	breast:
26	chr2:74209066..74214459-chr2:74345671..74349502,5	K562	blood:
27	chr2:74147649..74157677-chr2:74203379..74217813,34	MCF-7	breast:
28	chr2:74055755..74057848-chr2:74210321..74213795,3	MCF-7	breast:
29	chr2:74210601..74212361-chr2:74374459..74376721,2	MCF-7	breast:
30	chr2:74211059..74212577-chr2:74271171..74274101,2	MCF-7	breast:
31	chr2:74209017..74213063-chr2:74345530..74349441,7	MCF-7	breast:

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

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74210600-74212000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:74210600-74213000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr2:74210800-74212000	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr2:74210800-74212800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:74210800-74213000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:74210800-74213000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:74210800-74213000	Active TSS	Colon Smooth Muscle	Colon
8	chr2:74210800-74213000	Active TSS	Gastric	stomach
9	chr2:74210800-74213000	Active TSS	Rectal Smooth Muscle	rectum
10	chr2:74211000-74212800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:74211000-74213000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:74211000-74213200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr2:74211200-74212000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr2:74211200-74212000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr2:74211200-74212800	Active TSS	Brain Cingulate Gyrus	brain
16	chr2:74211200-74212800	Active TSS	Fetal Intestine Large	intestine
17	chr2:74211200-74213200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:74211400-74212200	Active TSS	Brain Anterior Caudate	brain
19	chr2:74211400-74212800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:74211400-74212800	Active TSS	Fetal Brain Female	brain
21	chr2:74211400-74212800	Active TSS	NHEK	skin
22	chr2:74211400-74213000	Active TSS	Aorta	Aorta
23	chr2:74211400-74213000	Active TSS	Duodenum Mucosa	Duodenum
24	chr2:74211400-74213000	Active TSS	Esophagus	oesophagus
25	chr2:74211400-74213000	Active TSS	HSMMtube	muscle
26	chr2:74211400-74213200	Active TSS	Small Intestine	intestine
27	chr2:74211600-74212800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:74211600-74212800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:74211600-74212800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:74211600-74212800	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr2:74211600-74212800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr2:74211600-74212800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:74211600-74212800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:74211600-74212800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:74211600-74212800	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr2:74211600-74212800	Weak transcription	Fetal Brain Male	brain
37	chr2:74211600-74212800	Active TSS	Fetal Intestine Small	intestine
38	chr2:74211600-74212800	Active TSS	Fetal Thymus	thymus
39	chr2:74211600-74212800	Active TSS	Left Ventricle	heart
40	chr2:74211600-74212800	Active TSS	Pancreas	Pancrea
41	chr2:74211600-74212800	Active TSS	Psoas Muscle	Psoas
42	chr2:74211600-74212800	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr2:74211600-74212800	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr2:74211600-74212800	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr2:74211600-74212800	Active TSS	K562	blood
46	chr2:74211600-74213000	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr2:74211600-74213000	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr2:74211600-74213000	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr2:74211600-74213000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:74211600-74213000	Active TSS	Breast Myoepithelial Primary Cells	Breast

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