Variant report

Variant	rs62621453
Chromosome Location	chr2:64069022-64069023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:364)
CpG islands
(count:122)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:64067662-64069172	HUVEC	blood vessel:	n/a	n/a
2	SIN3A	chr2:64067241-64069212	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:64067418-64069792	K562	blood:	n/a	n/a
4	POLR2A	chr2:64067196-64069274	HL-60	blood:	n/a	n/a
5	EP300	chr2:64068487-64069202	GM12878	blood:	n/a	chr2:64068777-64068793
6	MAX	chr2:64067261-64069107	H1-hESC	embryonic stem cell:	n/a	n/a
7	SP4	chr2:64067437-64069169	H1-hESC	embryonic stem cell:	n/a	chr2:64068388-64068404 chr2:64067994-64068010
8	POLR2A	chr2:64067693-64069196	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:64066467-64077414	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr2:64067196-64069886	ProgFib	skin:	n/a	n/a
11	KAP1	chr2:64067660-64070291	U2OS	brain:	n/a	n/a
12	ZNF143	chr2:64067536-64069084	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr2:64068612-64069232	SK-N-MC	brain:	n/a	n/a
14	CTCF	chr2:64068880-64069030	A549	lung:	n/a	chr2:64068913-64068931
15	TAF1	chr2:64067470-64069236	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr2:64067707-64069234	HUVEC	blood vessel:	n/a	n/a
17	TBP	chr2:64068577-64069213	GM12878	blood:	n/a	n/a
18	POLR2A	chr2:64067017-64069463	HUVEC	blood vessel:	n/a	n/a
19	GTF2B	chr2:64068629-64069059	K562	blood:	n/a	n/a
20	STAT5A	chr2:64067482-64069174	GM12878	blood:	n/a	chr2:64068607-64068619 chr2:64067694-64067706
21	POLR2A	chr2:64067515-64069485	PFSK-1	brain:	n/a	n/a
22	REST	chr2:64068614-64069219	PFSK-1	brain:	n/a	chr2:64068680-64068690
23	MAX	chr2:64067483-64070170	Hela-S3	cervix:	n/a	n/a
24	IRF1	chr2:64068583-64069638	K562	blood:	n/a	n/a
25	POLR2A	chr2:64067326-64069633	K562	blood:	n/a	n/a
26	MYBL2	chr2:64067599-64070273	HepG2	liver:	n/a	n/a
27	TAF1	chr2:64067643-64069065	HepG2	liver:	n/a	n/a
28	CHD1	chr2:64067067-64074747	H1-hESC	embryonic stem cell:	n/a	chr2:64068850-64068860 chr2:64068822-64068832 chr2:64068878-64068888 chr2:64067996-64068006
29	POLR2A	chr2:64067434-64069928	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr2:64067224-64069354	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr2:64067549-64069258	SK-N-SH	brain:	n/a	n/a
32	MAX	chr2:64067522-64069978	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr2:64067485-64069228	GM12891	blood:	n/a	n/a
34	CTCF	chr2:64068539-64069051	GM12878	blood:	n/a	chr2:64068913-64068931
35	POLR2A	chr2:64067445-64069126	GM12878	blood:	n/a	n/a
36	HCFC1	chr2:64067197-64069270	Hela-S3	cervix:	n/a	n/a
37	ELF1	chr2:64067431-64069249	MCF-7	breast:	n/a	n/a
38	REST	chr2:64067437-64069483	H1-neurons	neurons:	n/a	chr2:64068680-64068690
39	SIN3AK20	chr2:64067343-64070208	MCF-7	breast:	n/a	n/a
40	POLR2A	chr2:64067379-64069892	PBDE	blood:	n/a	n/a
41	CHD2	chr2:64067446-64069102	GM12878	blood:	n/a	chr2:64068850-64068860 chr2:64068822-64068832 chr2:64068878-64068888 chr2:64067996-64068006
42	RELA	chr2:64067362-64069145	GM15510	blood:	n/a	n/a
43	POLR2A	chr2:64067303-64069117	GM12878	blood:	n/a	n/a
44	MYC	chr2:64067886-64069418	MCF10A-Er-Src	breast:	n/a	n/a
45	RAD21	chr2:64068523-64069029	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:64067284-64069244	ECC-1	luminal epithelium:	n/a	n/a
47	PML	chr2:64067522-64069860	K562	blood:	n/a	n/a
48	HDAC2	chr2:64067451-64069162	MCF-7	breast:	n/a	chr2:64067954-64067973
49	POLR2A	chr2:64067228-64069210	GM19193	blood:	n/a	n/a
50	ZKSCAN1	chr2:64067824-64069091	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:64069010-64069060	BE2_C	brain:	n/a
2	chr2:64068982-64069032	SK-N-SH	brain:	n/a
3	chr2:64068982-64069032	AG09319	gingival:	n/a
4	chr2:64069010-64069060	Hela-S3	cervix:	n/a
5	chr2:64069010-64069060	Caco-2	colon:	n/a
6	chr2:64069010-64069060	PANC-1	pancreas:	n/a
7	chr2:64068982-64069032	AoSMC	blood vessel:	n/a
8	chr2:64069010-64069060	MCF10A-Er-Src	breast:	n/a
9	chr2:64068982-64069032	HRE	kidney:	n/a
10	chr2:64068982-64069032	T-47D	breast:	n/a
11	chr2:64068982-64069032	GM12891	blood:	n/a
12	chr2:64068982-64069032	HL-60	blood:	n/a
13	chr2:64069010-64069060	ProgFib	skin:	n/a
14	chr2:64069010-64069060	SAEC	small airway:	n/a
15	chr2:64069010-64069060	RPTEC	kidney:	n/a
16	chr2:64068982-64069032	HCPEpiC	choroid plexus:	n/a
17	chr2:64068982-64069032	ECC-1	luminal epithelium:	n/a
18	chr2:64068982-64069032	MCF10A-Er-Src	breast:	n/a
19	chr2:64069010-64069060	IMR90	lung:	fetal
20	chr2:64069010-64069060	GM19239	blood:	n/a
21	chr2:64068982-64069032	GM19239	blood:	n/a
22	chr2:64068982-64069032	PANC-1	pancreas:	n/a
23	chr2:64069010-64069060	AoSMC	blood vessel:	n/a
24	chr2:64068982-64069032	NT2-D1	testis:	n/a
25	chr2:64068982-64069032	A549	lung:	n/a
26	chr2:64069010-64069060	ECC-1	luminal epithelium:	n/a
27	chr2:64068982-64069032	Jurkat	blood:	n/a
28	chr2:64069010-64069060	A549	lung:	n/a
29	chr2:64068982-64069032	HCT-116	colon:	n/a
30	chr2:64069010-64069060	HPAEpiC	pulmonary alveolar:	n/a
31	chr2:64069010-64069060	HRCEpiC	kidney:	n/a
32	chr2:64069010-64069060	HNPCEpiC	eye:	n/a
33	chr2:64068982-64069032	HPAEpiC	pulmonary alveolar:	n/a
34	chr2:64069010-64069060	PFSK-1	brain:	n/a
35	chr2:64069010-64069060	NT2-D1	testis:	n/a
36	chr2:64069010-64069060	HMEC	breast:	n/a
37	chr2:64069010-64069060	AG09319	gingival:	n/a
38	chr2:64069010-64069060	SK-N-SH	brain:	n/a
39	chr2:64069010-64069060	NH-A	brain:	n/a
40	chr2:64068982-64069032	NHDF-neo	bronchial:	n/a
41	chr2:64068982-64069032	HCM	heart:	n/a
42	chr2:64068982-64069032	HUVEC	blood vessel:	n/a
43	chr2:64068982-64069032	IMR90	lung:	fetal
44	chr2:64069010-64069060	U87	brain:	n/a
45	chr2:64068982-64069032	AG10803	skin:	n/a
46	chr2:64068982-64069032	RPTEC	kidney:	n/a
47	chr2:64069010-64069060	NHBE	bronchial:	n/a
48	chr2:64069010-64069060	HL-60	blood:	n/a
49	chr2:64069010-64069060	GM12892	blood:	n/a
50	chr2:64069010-64069060	K562	blood:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:63816373..63818974-chr2:64066021..64069792,3	MCF-7	breast:
2	chr2:64052299..64060510-chr2:64066102..64071144,11	MCF-7	breast:
3	chr2:64066407..64070482-chr2:64071096..64075382,10	MCF-7	breast:
4	chr2:64052304..64056068-chr2:64066396..64069697,6	K562	blood:
5	chr2:64066782..64070718-chr2:64080924..64091365,11	MCF-7	breast:
6	chr15:42783198..42783888-chr2:64068476..64069063,2	Hela-S3	cervix:
7	chr12:54379268..54380175-chr2:64068994..64069987,2	Hela-S3	cervix:
8	chr2:64065422..64070588-chr2:64080925..64083417,5	K562	blood:
9	chr2:64066677..64069203-chr2:64081708..64084913,3	MCF-7	breast:
10	chr1:19577823..19578483-chr2:64068731..64069281,2	Hela-S3	cervix:
11	chr2:64068765..64069430-chr5:138677613..138678199,2	Hela-S3	cervix:
12	chr19:49468534..49469455-chr2:64068708..64069486,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
UGP2	TF binding region
UGP2	CpG island
ENSG00000143951	Chromatin interaction
ENSG00000014641	Chromatin interaction
ENSG00000087086	Chromatin interaction
ENSG00000053372	Chromatin interaction
ENSG00000169764	Chromatin interaction
ENSG00000180818	Chromatin interaction
ENSG00000092531	Chromatin interaction
ENSG00000251151	Chromatin interaction
ENSG00000127463	Chromatin interaction
ENSG00000120727	Chromatin interaction
ENSG00000103994	Chromatin interaction
ENSG00000273049	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55666948	0.83[EUR][1000 genomes]
rs55728742	0.86[EUR][1000 genomes]
rs56101159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56227836	0.83[EUR][1000 genomes]
rs56337137	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 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	chr2:64065800-64071000	Active TSS	Liver	Liver
2	chr2:64066800-64069800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr2:64066800-64070600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:64067000-64070000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr2:64067000-64073200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr2:64067000-64075800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr2:64067000-64076400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:64067200-64069800	Active TSS	Brain Anterior Caudate	brain
9	chr2:64067200-64069800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:64067200-64070000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:64067200-64070000	Active TSS	Fetal Kidney	kidney
12	chr2:64067200-64070000	Active TSS	Pancreas	Pancrea
13	chr2:64067200-64070000	Active TSS	Rectal Smooth Muscle	rectum
14	chr2:64067200-64070200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:64067200-64070200	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr2:64067200-64070200	Active TSS	Gastric	stomach
17	chr2:64067200-64070400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:64067200-64070800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:64067200-64071600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:64067200-64071800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:64067200-64072000	Active TSS	Aorta	Aorta
22	chr2:64067200-64072000	Active TSS	Fetal Muscle Trunk	muscle
23	chr2:64067200-64072200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:64067200-64072200	Active TSS	Colonic Mucosa	Colon
25	chr2:64067200-64072400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:64067200-64073200	Active TSS	Left Ventricle	heart
27	chr2:64067200-64073400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:64067400-64069800	Active TSS	H1 Cell Line	embryonic stem cell
29	chr2:64067400-64070000	Active TSS	GM12878-XiMat	blood
30	chr2:64067400-64070200	Active TSS	Esophagus	oesophagus
31	chr2:64067400-64070200	Active TSS	Lung	lung
32	chr2:64067400-64070200	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr2:64067400-64070400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:64067400-64070400	Active TSS	Ovary	ovary
35	chr2:64067400-64071000	Active TSS	Thymus	Thymus
36	chr2:64067400-64071400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:64067400-64072200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:64067400-64074000	Active TSS	H9 Cell Line	embryonic stem cell
39	chr2:64067600-64069200	Active TSS	Primary T cells from cord blood	blood
40	chr2:64067600-64069200	Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr2:64067600-64069200	Active TSS	Fetal Heart	heart
42	chr2:64067600-64069400	Active TSS	Primary B cells from peripheral blood	blood
43	chr2:64067600-64069400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:64067600-64069400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:64067600-64069400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:64067600-64069400	Active TSS	Duodenum Mucosa	Duodenum
47	chr2:64067600-64069400	Active TSS	Fetal Stomach	stomach
48	chr2:64067600-64069400	Active TSS	Dnd41	blood
49	chr2:64067600-64069600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:64067600-64069600	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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