Variant report

Variant	rs576793703
Chromosome Location	chr2:74212785-74212786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:158)
CpG islands
(count:61)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:158 , 50 per page) page: 1 2 3 4

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	chr2:74212601-74212788	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr2:74211225-74213109	NB4	blood:	n/a	n/a
4	POLR2A	chr2:74212750-74213050	MCF10A-Er-Src	breast:	n/a	n/a
5	NFIC	chr2:74212660-74213420	GM12878	blood:	n/a	n/a
6	ELF1	chr2:74212521-74213767	GM12878	blood:	n/a	chr2:74213031-74213044 chr2:74213032-74213043
7	STAT1	chr2:74212675-74212946	GM12878	blood:	n/a	chr2:74212841-74212853
8	POLR2A	chr2:74211177-74212821	GM12878	blood:	n/a	n/a
9	RELA	chr2:74212520-74213435	GM12891	blood:	n/a	n/a
10	FOXM1	chr2:74212585-74213281	GM12878	blood:	n/a	n/a
11	TCF7L2	chr2:74210640-74212797	HCT-116	colon:	n/a	n/a
12	POLR2A	chr2:74210759-74213608	GM19193	blood:	n/a	n/a
13	POLR2A	chr2:74212671-74213623	GM12891	blood:	n/a	n/a
14	CHD2	chr2:74212781-74212936	K562	blood:	n/a	n/a
15	POLR2A	chr2:74211545-74213099	HUVEC	blood vessel:	n/a	n/a
16	RELA	chr2:74212629-74213574	GM19193	blood:	n/a	n/a
17	NFATC1	chr2:74212582-74213061	GM12878	blood:	n/a	n/a
18	POLR2A	chr2:74212634-74213197	HCT-116	colon:	n/a	n/a
19	CCNT2	chr2:74211347-74213049	K562	blood:	n/a	chr2:74211893-74211902 chr2:74212839-74212848 chr2:74212028-74212037
20	SIN3AK20	chr2:74212645-74213182	K562	blood:	n/a	n/a
21	TCF12	chr2:74212552-74213365	A549	lung:	n/a	chr2:74212905-74212915
22	POLR2A	chr2:74212611-74213909	HL-60	blood:	n/a	n/a
23	ZNF143	chr2:74212661-74212923	GM12878	blood:	n/a	chr2:74212705-74212715
24	CEBPB	chr2:74212654-74213059	GM12878	blood:	n/a	chr2:74212990-74213003
25	EGR1	chr2:74212372-74212807	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:74211265-74213546	GM18526	blood:	n/a	n/a
27	CHD2	chr2:74211583-74213231	Hela-S3	cervix:	n/a	chr2:74212029-74212039
28	HA-E2F1	chr2:74211482-74213149	Hela-S3	cervix:	n/a	chr2:74212028-74212040 chr2:74212028-74212037
29	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
30	POLR2A	chr2:74210733-74212841	A549	lung:	n/a	n/a
31	MYC	chr2:74212632-74213208	K562	blood:	n/a	chr2:74213042-74213061
32	POLR2A	chr2:74211018-74213746	K562	blood:	n/a	n/a
33	RELA	chr2:74212610-74213283	GM15510	blood:	n/a	n/a
34	STAT5A	chr2:74212653-74213437	GM12878	blood:	n/a	chr2:74213026-74213034 chr2:74212841-74212853
35	POLR2A	chr2:74210822-74213106	H1-hESC	embryonic stem cell:	n/a	n/a
36	YY1	chr2:74212537-74213224	GM12892	blood:	n/a	chr2:74212702-74212716
37	TAF1	chr2:74212635-74212863	SK-N-SH	brain:	n/a	n/a
38	CTCF	chr2:74212660-74212810	GM12864	blood:	n/a	n/a
39	POLR2A	chr2:74212597-74214324	GM12892	blood:	n/a	n/a
40	BCL3	chr2:74212575-74213048	GM12878	blood:	n/a	chr2:74212943-74212956 chr2:74213020-74213029
41	POLR2A	chr2:74210840-74213762	GM15510	blood:	n/a	n/a
42	HEY1	chr2:74212450-74213252	HepG2	liver:	n/a	n/a
43	POLR2A	chr2:74212660-74213769	GM12892	blood:	n/a	n/a
44	REST	chr2:74212675-74213171	HL-60	blood:	n/a	n/a
45	RCOR1	chr2:74212770-74213555	GM12878	blood:	n/a	n/a
46	POLR2A	chr2:74212714-74213058	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr2:74212699-74213000	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr2:74212594-74215561	GM12892	blood:	n/a	n/a
49	POLR2A	chr2:74212598-74213096	GM12878	blood:	n/a	n/a
50	CTCF	chr2:74212754-74212878	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:74212782-74212832	IMR90	lung:	fetal
2	chr2:74212782-74212832	HCPEpiC	choroid plexus:	n/a
3	chr2:74212782-74212832	AG04450	lung:	fetal
4	chr2:74212782-74212832	HCM	heart:	n/a
5	chr2:74212782-74212832	AG10803	skin:	n/a
6	chr2:74212782-74212832	HPAEpiC	pulmonary alveolar:	n/a
7	chr2:74212782-74212832	Jurkat	blood:	n/a
8	chr2:74212782-74212832	MCF10A-Er-Src	breast:	n/a
9	chr2:74212782-74212832	SK-N-MC	brain:	n/a
10	chr2:74212782-74212832	AG09319	gingival:	n/a
11	chr2:74212782-74212832	HCT-116	colon:	n/a
12	chr2:74212782-74212832	HRE	kidney:	n/a
13	chr2:74212782-74212832	BE2_C	brain:	n/a
14	chr2:74212782-74212832	ovcar-3	ovarian:	n/a
15	chr2:74212782-74212832	GM06990	blood:	n/a
16	chr2:74212782-74212832	NHBE	bronchial:	n/a
17	chr2:74212782-74212832	SK-N-SH	brain:	n/a
18	chr2:74212782-74212832	PFSK-1	brain:	n/a
19	chr2:74212782-74212832	HMEC	breast:	n/a
20	chr2:74212782-74212832	BJ	skin:	n/a
21	chr2:74212782-74212832	HepG2	liver:	n/a
22	chr2:74212782-74212832	HAEpiC	amniotic membrane:	n/a
23	chr2:74212782-74212832	ProgFib	skin:	n/a
24	chr2:74212782-74212832	HEEpiC	esophagus:	n/a
25	chr2:74212782-74212832	Hepatocyte	liver:	n/a
26	chr2:74212782-74212832	HEK293	kidney:	embryo
27	chr2:74212782-74212832	NB4	blood:	n/a
28	chr2:74212782-74212832	K562	blood:	n/a
29	chr2:74212782-74212832	H1-hESC	embryonic stem cell:	embryo
30	chr2:74212782-74212832	SKMC	muscle:	n/a
31	chr2:74212782-74212832	NT2-D1	testis:	n/a
32	chr2:74212782-74212832	AG09309	skin:	n/a
33	chr2:74212782-74212832	GM12892	blood:	n/a
34	chr2:74212782-74212832	AG04449	skin:	fetal
35	chr2:74212782-74212832	NH-A	brain:	n/a
36	chr2:74212782-74212832	GM19239	blood:	n/a
37	chr2:74212782-74212832	ECC-1	luminal epithelium:	n/a
38	chr2:74212782-74212832	GM12878	blood:	n/a
39	chr2:74212782-74212832	RPTEC	kidney:	n/a
40	chr2:74212782-74212832	Hela-S3	cervix:	n/a
41	chr2:74212782-74212832	HIPEpiC	eye:	n/a
42	chr2:74212782-74212832	HRPEpiC	eye:	n/a
43	chr2:74212782-74212832	Caco-2	colon:	n/a
44	chr2:74212782-74212832	HL-60	blood:	n/a
45	chr2:74212782-74212832	A549	lung:	n/a
46	chr2:74212782-74212832	LNCaP	prostate:	n/a
47	chr2:74212782-74212832	MCF-7	breast:	n/a
48	chr2:74212782-74212832	HUVEC	blood vessel:	n/a
49	chr2:74212782-74212832	CMK	blood:	n/a
50	chr2:74212782-74212832	HRCEpiC	kidney:	n/a

(count:26 , 50 per page) page: 1

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	chr2:74210903..74212994-chr2:74431667..74434283,2	MCF-7	breast:
4	chr2:74210880..74213761-chr2:74373693..74375989,3	K562	blood:
5	chr2:74187365..74198553-chr2:74205167..74212961,17	MCF-7	breast:
6	chr11:133905199..133907855-chr2:74210970..74213610,2	MCF-7	breast:
7	chr2:74211217..74213609-chr2:74345958..74348496,2	MCF-7	breast:
8	chr2:74052797..74060455-chr2:74207744..74214705,21	MCF-7	breast:
9	chr2:74103145..74104933-chr2:74212158..74213816,2	K562	blood:
10	chr2:74151695..74161558-chr2:74205273..74215127,19	K562	blood:
11	chr2:74210159..74214364-chr2:74424247..74427320,6	MCF-7	breast:
12	chr2:74209442..74213118-chr2:74372270..74377274,6	MCF-7	breast:
13	chr2:74151187..74158039-chr2:74203173..74216266,29	MCF-7	breast:
14	chr2:74212585..74213417-chr20:30194830..30195536,2	Hela-S3	cervix:
15	chr11:8709045..8711792-chr2:74211303..74213379,2	MCF-7	breast:
16	chr2:74212004..74214263-chr2:74425033..74427104,2	K562	blood:
17	chr2:74152462..74158334-chr2:74210550..74216243,8	K562	blood:
18	chr2:74210101..74212862-chr2:74733390..74736109,2	K562	blood:
19	chr2:74071679..74074362-chr2:74210863..74213464,2	K562	blood:
20	chr2:74055452..74058450-chr2:74210942..74214913,3	K562	blood:
21	chr2:74209118..74215634-chr2:74424964..74427991,9	MCF-7	breast:
22	chr12:122235984..122238947-chr2:74211072..74214040,3	MCF-7	breast:
23	chr2:74209066..74214459-chr2:74345671..74349502,5	K562	blood:
24	chr2:74147649..74157677-chr2:74203379..74217813,34	MCF-7	breast:
25	chr2:74055755..74057848-chr2:74210321..74213795,3	MCF-7	breast:
26	chr2:74209017..74213063-chr2:74345530..74349441,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255989	TF binding region
DGUOK-AS1	TF binding region
ENSG00000255989	CpG island
DGUOK-AS1	CpG island
ENSG00000124356	Chromatin interaction
ENSG00000271536	Chromatin interaction
ENSG00000254648	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000204241	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000201876	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000115289	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000225439	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:127 , 50 per page) page: 1 2 3

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

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