Variant report

Variant	rs1723290
Chromosome Location	chr2:74347308-74347309
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:320)
CpG islands
(count:61)
Chromatin interactive
region (count:23)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr2:74347100-74347837	GM15510	blood:	n/a	n/a
2	JUND	chr2:74347234-74347854	A549	lung:	n/a	chr2:74347733-74347742 chr2:74347339-74347348
3	POLR2A	chr2:74347221-74347868	NB4	blood:	n/a	n/a
4	SIX5	chr2:74347297-74347572	A549	lung:	n/a	n/a
5	EGR1	chr2:74347220-74347914	MCF-7	breast:	n/a	chr2:74347386-74347400 chr2:74347338-74347348
6	TAF1	chr2:74347266-74347830	HepG2	liver:	n/a	n/a
7	CHD1	chr2:74347065-74347948	GM12878	blood:	n/a	chr2:74347332-74347342
8	TAF7	chr2:74347278-74347739	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3AK20	chr2:74346995-74347806	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr2:74347059-74348013	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr2:74347258-74347864	H1-neurons	neurons:	n/a	n/a
12	E2F6	chr2:74347252-74347909	Hela-S3	cervix:	n/a	chr2:74347735-74347745 chr2:74347338-74347347
13	TAF1	chr2:74347248-74347846	Hela-S3	cervix:	n/a	n/a
14	MAX	chr2:74347191-74348022	MCF-7	breast:	n/a	chr2:74347337-74347347 chr2:74347424-74347434
15	ZNF143	chr2:74347269-74347814	K562	blood:	n/a	chr2:74347337-74347347
16	POLR2A	chr2:74347138-74347991	U87	brain:	n/a	n/a
17	TCF3	chr2:74347260-74347729	GM12878	blood:	n/a	n/a
18	POLR2A	chr2:74347096-74347979	GM12878	blood:	n/a	n/a
19	CTCF	chr2:74347224-74347877	MCF-7	breast:	n/a	chr2:74347701-74347714
20	POLR2A	chr2:74347120-74347933	PBDE	blood:	n/a	n/a
21	POLR2A	chr2:74347272-74347800	HepG2	liver:	n/a	n/a
22	RAD21	chr2:74347267-74347544	K562	blood:	n/a	n/a
23	CTCF	chr2:74347253-74347829	IMR90	lung:	n/a	chr2:74347701-74347714
24	CTCF	chr2:74347300-74347637	GM12891	blood:	n/a	n/a
25	GABPA	chr2:74347159-74348063	SK-N-SH	brain:	n/a	chr2:74347338-74347347
26	ELF1	chr2:74347125-74347917	HepG2	liver:	n/a	n/a
27	CTCF	chr2:74347297-74347582	MCF-7	breast:	n/a	n/a
28	POLR2A	chr2:74346970-74347962	Hela-S3	cervix:	n/a	n/a
29	REST	chr2:74347146-74347975	HL-60	blood:	n/a	chr2:74347352-74347365
30	ZC3H11A	chr2:74346713-74347930	K562	blood:	n/a	n/a
31	ZNF143	chr2:74347238-74347722	GM12878	blood:	n/a	chr2:74347337-74347347
32	CTCF	chr2:74347290-74347613	A549	lung:	n/a	n/a
33	POLR2A	chr2:74347061-74347874	K562	blood:	n/a	n/a
34	POLR2A	chr2:74347073-74347861	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr2:74347263-74347885	GM12878	blood:	n/a	n/a
36	TCF12	chr2:74347118-74348053	A549	lung:	n/a	n/a
37	POLR2A	chr2:74347301-74347848	H1-neurons	neurons:	n/a	n/a
38	CTCFL	chr2:74347240-74347756	K562	blood:	n/a	chr2:74347428-74347437
39	ELF1	chr2:74347059-74347883	GM12878	blood:	n/a	n/a
40	SRF	chr2:74347158-74347863	MCF-7	breast:	n/a	n/a
41	YY1	chr2:74347047-74347876	GM12892	blood:	n/a	chr2:74347678-74347700 chr2:74347681-74347689 chr2:74347490-74347498 chr2:74347549-74347560 chr2:74347737-74347746 chr2:74347676-74347695 chr2:74347333-74347347 chr2:74347424-74347435 chr2:74347679-74347687 chr2:74347678-74347688
42	TCF12	chr2:74347120-74347927	ECC-1	luminal epithelium:	n/a	n/a
43	HEY1	chr2:74347073-74347887	K562	blood:	n/a	chr2:74347322-74347337 chr2:74347733-74347748
44	POLR2A	chr2:74347124-74347876	GM12878	blood:	n/a	n/a
45	GABPA	chr2:74347095-74347883	K562	blood:	n/a	chr2:74347338-74347347
46	POLR2A	chr2:74347227-74347928	HUVEC	blood vessel:	n/a	n/a
47	YY1	chr2:74347134-74347961	SK-N-SH_RA	brain:	n/a	chr2:74347678-74347700 chr2:74347681-74347689 chr2:74347490-74347498 chr2:74347549-74347560 chr2:74347737-74347746 chr2:74347676-74347695 chr2:74347333-74347347 chr2:74347424-74347435 chr2:74347679-74347687 chr2:74347678-74347688
48	E2F6	chr2:74347074-74348063	K562	blood:	n/a	chr2:74347735-74347745 chr2:74347338-74347347
49	RAD21	chr2:74347165-74347659	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr2:74347130-74347960	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:74347274-74347324	NHDF-neo	bronchial:	n/a
2	chr2:74347274-74347324	ECC-1	luminal epithelium:	n/a
3	chr2:74347274-74347324	IMR90	lung:	fetal
4	chr2:74347274-74347324	HIPEpiC	eye:	n/a
5	chr2:74347274-74347324	SAEC	small airway:	n/a
6	chr2:74347274-74347324	T-47D	breast:	n/a
7	chr2:74347274-74347324	PANC-1	pancreas:	n/a
8	chr2:74347274-74347324	HL-60	blood:	n/a
9	chr2:74347274-74347324	HPAEpiC	pulmonary alveolar:	n/a
10	chr2:74347274-74347324	Caco-2	colon:	n/a
11	chr2:74347274-74347324	HMEC	breast:	n/a
12	chr2:74347274-74347324	HRCEpiC	kidney:	n/a
13	chr2:74347274-74347324	MCF-7	breast:	n/a
14	chr2:74347274-74347324	AG04449	skin:	fetal
15	chr2:74347274-74347324	AG09319	gingival:	n/a
16	chr2:74347274-74347324	LNCaP	prostate:	n/a
17	chr2:74347274-74347324	SKMC	muscle:	n/a
18	chr2:74347274-74347324	NB4	blood:	n/a
19	chr2:74347274-74347324	MCF10A-Er-Src	breast:	n/a
20	chr2:74347274-74347324	NT2-D1	testis:	n/a
21	chr2:74347274-74347324	NHBE	bronchial:	n/a
22	chr2:74347274-74347324	Jurkat	blood:	n/a
23	chr2:74347274-74347324	AG04450	lung:	fetal
24	chr2:74347274-74347324	GM12878	blood:	n/a
25	chr2:74347274-74347324	HUVEC	blood vessel:	n/a
26	chr2:74347274-74347324	U87	brain:	n/a
27	chr2:74347274-74347324	HAEpiC	amniotic membrane:	n/a
28	chr2:74347274-74347324	BJ	skin:	n/a
29	chr2:74347274-74347324	Hepatocyte	liver:	n/a
30	chr2:74347274-74347324	HEEpiC	esophagus:	n/a
31	chr2:74347274-74347324	A549	lung:	n/a
32	chr2:74347274-74347324	PFSK-1	brain:	n/a
33	chr2:74347274-74347324	HepG2	liver:	n/a
34	chr2:74347274-74347324	BE2_C	brain:	n/a
35	chr2:74347274-74347324	ProgFib	skin:	n/a
36	chr2:74347274-74347324	CMK	blood:	n/a
37	chr2:74347274-74347324	HCPEpiC	choroid plexus:	n/a
38	chr2:74347274-74347324	HCT-116	colon:	n/a
39	chr2:74347274-74347324	AoSMC	blood vessel:	n/a
40	chr2:74347274-74347324	AG10803	skin:	n/a
41	chr2:74347274-74347324	NH-A	brain:	n/a
42	chr2:74347274-74347324	HCF	heart:	n/a
43	chr2:74347274-74347324	SK-N-MC	brain:	n/a
44	chr2:74347274-74347324	GM12891	blood:	n/a
45	chr2:74347274-74347324	GM19239	blood:	n/a
46	chr2:74347274-74347324	HCM	heart:	n/a
47	chr2:74347274-74347324	RPTEC	kidney:	n/a
48	chr2:74347274-74347324	AG09309	skin:	n/a
49	chr2:74347274-74347324	HEK293	kidney:	embryo
50	chr2:74347274-74347324	HNPCEpiC	eye:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74345450..74348977-chr2:74371413..74376785,7	MCF-7	breast:
2	chr2:74346224..74348120-chr2:74425405..74427108,2	MCF-7	breast:
3	chr2:74345117..74347381-chr2:74403458..74405692,2	K562	blood:
4	chr2:74347177..74347948-chr2:74374539..74375360,2	MCF-7	breast:
5	chr2:74345218..74347575-chr2:74362895..74365930,3	MCF-7	breast:
6	chr2:74077294..74080205-chr2:74346163..74349130,2	K562	blood:
7	chr2:74347130..74350614-chr2:74373490..74375151,4	K562	blood:
8	chr2:74209017..74213063-chr2:74345530..74349441,7	MCF-7	breast:
9	chr2:74346117..74347922-chr2:74374665..74375603,8	MCF-7	breast:
10	chr2:74346450..74347357-chr2:74378287..74379222,5	MCF-7	breast:
11	chr2:74153590..74155495-chr2:74346048..74348829,2	MCF-7	breast:
12	chr2:74228214..74230441-chr2:74345373..74347359,2	MCF-7	breast:
13	chr2:74346321..74348591-chr2:74373615..74376560,4	MCF-7	breast:
14	chr2:74345336..74350949-chr2:74424473..74426826,5	K562	blood:
15	chr17:7382544..7383272-chr2:74347263..74347881,2	Hela-S3	cervix:
16	chr2:74211217..74213609-chr2:74345958..74348496,2	MCF-7	breast:
17	chr2:74341140..74342698-chr2:74345165..74347541,2	MCF-7	breast:
18	chr2:74346058..74349268-chr2:74424477..74426947,5	K562	blood:
19	chr11:71823591..71824486-chr2:74346899..74347812,2	Hela-S3	cervix:
20	chr2:74209066..74214459-chr2:74345671..74349502,5	K562	blood:
21	chr2:74347151..74347932-chr6:159290392..159290973,2	Hela-S3	cervix:
22	chr2:74347109..74347870-chr2:74374605..74375136,2	K562	blood:
23	chr2:74345940..74348146-chr2:74432915..74434982,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC073263.1-3	chr2:74345408-74349576	NONHSAT071660

No data

Variant related genes	Relation type
FNBP1P1	TF binding region
FNBP1P1	CpG island
ENSG00000114978	Chromatin interaction
ENSG00000203711	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000255989	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000187605	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000110200	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1026150	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1095969	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1095970	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12996870	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13025827	0.90[ASN][1000 genomes]
rs1667615	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1667616	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1667622	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1723283	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1723284	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421753	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3099822	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3099823	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3108161	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3108162	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34284832	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35955502	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6758220	0.90[ASN][1000 genomes]
rs702463	0.85[ASN][1000 genomes]
rs702464	0.85[ASN][1000 genomes]
rs828841	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs828843	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828845	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828846	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828847	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828848	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828850	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828864	0.89[ASN][1000 genomes]
rs828865	0.89[ASN][1000 genomes]
rs828897	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs828898	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs828901	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874284	chr2:74283728-74348797	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv874285	chr2:74283728-74355244	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74344200-74347400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:74346600-74347400	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr2:74346600-74347800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:74346600-74347800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr2:74346600-74347800	Active TSS	Fetal Lung	lung
6	chr2:74346600-74347800	Active TSS	Sigmoid Colon	Sigmoid Colon
7	chr2:74346600-74347800	Active TSS	K562	blood
8	chr2:74346600-74348000	Active TSS	Brain Anterior Caudate	brain
9	chr2:74346600-74348200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:74346800-74347600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:74346800-74347800	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr2:74346800-74347800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:74346800-74348000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr2:74346800-74348000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr2:74346800-74348000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr2:74346800-74348200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:74346800-74348200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:74346800-74348400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr2:74346800-74348400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr2:74347000-74347400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr2:74347000-74347400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:74347000-74347400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr2:74347000-74347400	Flanking Active TSS	Fetal Muscle Trunk	muscle
24	chr2:74347000-74347400	Active TSS	Psoas Muscle	Psoas
25	chr2:74347000-74347600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:74347000-74347600	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr2:74347000-74347600	Active TSS	Liver	Liver
28	chr2:74347000-74347600	Active TSS	Brain Germinal Matrix	brain
29	chr2:74347000-74347600	Active TSS	GM12878-XiMat	blood
30	chr2:74347000-74347800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr2:74347000-74347800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:74347000-74347800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:74347000-74347800	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr2:74347000-74347800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:74347000-74347800	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr2:74347000-74347800	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr2:74347000-74347800	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr2:74347000-74347800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:74347000-74347800	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr2:74347000-74347800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr2:74347000-74347800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr2:74347000-74347800	Active TSS	Esophagus	oesophagus
43	chr2:74347000-74347800	Active TSS	Rectal Smooth Muscle	rectum
44	chr2:74347000-74347800	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr2:74347000-74347800	Active TSS	HSMMtube	muscle
46	chr2:74347000-74347800	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr2:74347000-74347800	Active TSS	NHEK	skin
48	chr2:74347000-74348000	Active TSS	H1 Cell Line	embryonic stem cell
49	chr2:74347000-74348000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:74347000-74348000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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