Variant report

Variant	rs6749007
Chromosome Location	chr2:169746975-169746976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:374)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:374 , 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	ETS1	chr2:169746695-169747187	GM12878	blood:	n/a	chr2:169746949-169746960
2	RUNX3	chr2:169746559-169747217	GM12878	blood:	n/a	n/a
3	ZBTB33	chr2:169746745-169747266	A549	lung:	n/a	n/a
4	SIN3A	chr2:169746618-169747257	GM12878	blood:	n/a	n/a
5	SPI1	chr2:169746808-169747163	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:169746798-169747109	MCF10A-Er-Src	breast:	n/a	n/a
7	SIX5	chr2:169746743-169747258	A549	lung:	n/a	n/a
8	POLR2A	chr2:169746534-169747286	PFSK-1	brain:	n/a	n/a
9	SP1	chr2:169746521-169747423	HCT-116	colon:	n/a	chr2:169746979-169747000
10	SPI1	chr2:169746885-169747100	GM12891	blood:	n/a	n/a
11	CHD2	chr2:169746529-169747449	K562	blood:	n/a	n/a
12	HEY1	chr2:169746697-169747033	HepG2	liver:	n/a	n/a
13	GABPA	chr2:169746703-169747221	A549	lung:	n/a	n/a
14	ELF1	chr2:169746795-169747182	A549	lung:	n/a	n/a
15	TBL1XR1	chr2:169746827-169747614	K562	blood:	n/a	n/a
16	ETS1	chr2:169746646-169747308	A549	lung:	n/a	chr2:169746949-169746960
17	MAFK	chr2:169746770-169747164	HepG2	liver:	n/a	n/a
18	POLR2A	chr2:169746474-169747148	K562	blood:	n/a	n/a
19	POLR2A	chr2:169746685-169747030	A549	lung:	n/a	n/a
20	CTCF	chr2:169746906-169747163	Spleen_OC	spleen:	n/a	chr2:169746964-169746977 chr2:169746943-169746950
21	POLR2A	chr2:169746585-169747072	GM12892	blood:	n/a	n/a
22	YY1	chr2:169746711-169747258	GM12878	blood:	n/a	chr2:169746996-169747010
23	EGR1	chr2:169746838-169747059	GM12878	blood:	n/a	chr2:169746871-169746881
24	RCOR1	chr2:169746650-169747221	K562	blood:	n/a	n/a
25	POLR2A	chr2:169746710-169747011	A549	lung:	n/a	n/a
26	HCFC1	chr2:169746526-169747487	Hela-S3	cervix:	n/a	n/a
27	MAX	chr2:169746425-169747212	K562	blood:	n/a	n/a
28	SP1	chr2:169746832-169747235	GM12878	blood:	n/a	chr2:169746979-169747000
29	YY1	chr2:169746899-169747139	K562	blood:	n/a	chr2:169746996-169747010
30	POLR2A	chr2:169746574-169747037	GM12878	blood:	n/a	n/a
31	ARID3A	chr2:169746801-169747329	K562	blood:	n/a	n/a
32	HMGN3	chr2:169746494-169747079	K562	blood:	n/a	n/a
33	SP1	chr2:169746765-169747315	H1-hESC	embryonic stem cell:	n/a	chr2:169746979-169747000
34	ETS1	chr2:169746679-169747184	K562	blood:	n/a	chr2:169746949-169746960
35	YY1	chr2:169746659-169747205	GM12892	blood:	n/a	chr2:169746996-169747010
36	TAF1	chr2:169746671-169747107	SK-N-SH	brain:	n/a	n/a
37	CEBPB	chr2:169746561-169747327	K562	blood:	n/a	n/a
38	YY1	chr2:169746840-169747231	GM12892	blood:	n/a	chr2:169746996-169747010
39	POU2F2	chr2:169746645-169747175	GM12878	blood:	n/a	n/a
40	EP300	chr2:169746887-169747303	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:169746695-169747161	SK-N-MC	brain:	n/a	n/a
42	SIN3A	chr2:169746211-169747310	H1-hESC	embryonic stem cell:	n/a	n/a
43	USF2	chr2:169746884-169747138	HepG2	liver:	n/a	n/a
44	STAT3	chr2:169746909-169747107	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr2:169746684-169747070	ProgFib	skin:	n/a	n/a
46	TBP	chr2:169746682-169747143	H1-hESC	embryonic stem cell:	n/a	n/a
47	FOS	chr2:169746935-169747137	MCF10A-Er-Src	breast:	n/a	chr2:169746988-169746997
48	POLR2A	chr2:169746202-169747501	PBDE	blood:	n/a	n/a
49	MYC	chr2:169746719-169747208	K562	blood:	n/a	n/a
50	SP2	chr2:169746686-169747307	HepG2	liver:	n/a	chr2:169746988-169746998 chr2:169746992-169747015

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:169746965-169747015	HCM	heart:	n/a
2	chr2:169746965-169747015	IMR90	lung:	fetal
3	chr2:169746965-169747015	Jurkat	blood:	n/a
4	chr2:169746965-169747015	AG10803	skin:	n/a
5	chr2:169746958-169747008	Hela-S3	cervix:	n/a
6	chr2:169746958-169747008	ProgFib	skin:	n/a
7	chr2:169746965-169747015	SK-N-MC	brain:	n/a
8	chr2:169746958-169747008	SK-N-MC	brain:	n/a
9	chr2:169746958-169747008	SAEC	small airway:	n/a
10	chr2:169746958-169747008	HCT-116	colon:	n/a
11	chr2:169746958-169747008	LNCaP	prostate:	n/a
12	chr2:169746965-169747015	Hepatocyte	liver:	n/a
13	chr2:169746958-169747008	AG09309	skin:	n/a
14	chr2:169746958-169747008	H1-hESC	embryonic stem cell:	embryo
15	chr2:169746958-169747008	HIPEpiC	eye:	n/a
16	chr2:169746958-169747008	Jurkat	blood:	n/a
17	chr2:169746965-169747015	SKMC	muscle:	n/a
18	chr2:169746958-169747008	BJ	skin:	n/a
19	chr2:169746958-169747008	NHDF-neo	bronchial:	n/a
20	chr2:169746958-169747008	SKMC	muscle:	n/a
21	chr2:169746958-169747008	AG09319	gingival:	n/a
22	chr2:169746958-169747008	MCF-7	breast:	n/a
23	chr2:169746965-169747015	HUVEC	blood vessel:	n/a
24	chr2:169746965-169747015	HCPEpiC	choroid plexus:	n/a
25	chr2:169746958-169747008	GM19239	blood:	n/a
26	chr2:169746958-169747008	HCPEpiC	choroid plexus:	n/a
27	chr2:169746958-169747008	HCM	heart:	n/a
28	chr2:169746965-169747015	HIPEpiC	eye:	n/a
29	chr2:169746958-169747008	T-47D	breast:	n/a
30	chr2:169746965-169747015	HPAEpiC	pulmonary alveolar:	n/a
31	chr2:169746965-169747015	HEK293	kidney:	embryo
32	chr2:169746958-169747008	HPAEpiC	pulmonary alveolar:	n/a
33	chr2:169746958-169747008	AG04450	lung:	fetal
34	chr2:169746965-169747015	HRE	kidney:	n/a
35	chr2:169746958-169747008	K562	blood:	n/a
36	chr2:169746965-169747015	NHDF-neo	bronchial:	n/a
37	chr2:169746965-169747015	HL-60	blood:	n/a
38	chr2:169746958-169747008	HEEpiC	esophagus:	n/a
39	chr2:169746958-169747008	PANC-1	pancreas:	n/a
40	chr2:169746965-169747015	NT2-D1	testis:	n/a
41	chr2:169746965-169747015	HMEC	breast:	n/a
42	chr2:169746965-169747015	BJ	skin:	n/a
43	chr2:169746958-169747008	SK-N-SH	brain:	n/a
44	chr2:169746958-169747008	ovcar-3	ovarian:	n/a
45	chr2:169746958-169747008	GM12892	blood:	n/a
46	chr2:169746958-169747008	IMR90	lung:	fetal
47	chr2:169746958-169747008	ECC-1	luminal epithelium:	n/a
48	chr2:169746958-169747008	HepG2	liver:	n/a
49	chr2:169746965-169747015	HRPEpiC	eye:	n/a
50	chr2:169746965-169747015	RPTEC	kidney:	n/a

No data

Variant related genes	Relation type
SPC25	TF binding region
SPC25	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1522018	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16856065	1.00[AMR][1000 genomes]
rs2272060	1.00[ASN][1000 genomes]
rs2272061	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2272062	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3814384	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv875381	chr2:169686559-169749841	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr2:169745800-169747200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr2:169745800-169747200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr2:169745800-169747200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr2:169745800-169747200	Active TSS	HSMM	muscle
5	chr2:169745800-169747400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:169745800-169747400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:169745800-169747400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:169745800-169747400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:169745800-169747400	Active TSS	Fetal Kidney	kidney
10	chr2:169745800-169747600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:169745800-169747600	Active TSS	A549	lung
12	chr2:169746000-169747000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:169746000-169747200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr2:169746000-169747200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr2:169746000-169747400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr2:169746000-169747400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr2:169746000-169747400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:169746000-169747400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:169746000-169747400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:169746000-169747400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:169746000-169747400	Active TSS	Fetal Intestine Large	intestine
22	chr2:169746000-169747400	Active TSS	Fetal Muscle Trunk	muscle
23	chr2:169746000-169747400	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr2:169746000-169747400	Active TSS	NHDF-Ad	bronchial
25	chr2:169746200-169747000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:169746200-169747000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:169746200-169747000	Active TSS	Esophagus	oesophagus
28	chr2:169746200-169747200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:169746200-169747200	Flanking Active TSS	Stomach Mucosa	stomach
30	chr2:169746200-169747400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr2:169746200-169747400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:169746200-169747400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:169746200-169747400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:169746200-169747400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:169746200-169747400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:169746200-169747400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr2:169746400-169747000	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr2:169746400-169747000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr2:169746400-169747000	Active TSS	Gastric	stomach
40	chr2:169746400-169747000	Active TSS	Dnd41	blood
41	chr2:169746400-169747200	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr2:169746400-169747200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr2:169746400-169747200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:169746400-169747200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:169746400-169747200	Flanking Active TSS	Liver	Liver
46	chr2:169746400-169747200	Active TSS	Brain Hippocampus Middle	brain
47	chr2:169746400-169747200	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr2:169746400-169747200	Active TSS	Brain Substantia Nigra	brain
49	chr2:169746400-169747200	Active TSS	Rectal Smooth Muscle	rectum
50	chr2:169746400-169747200	Active TSS	Hela-S3	cervix

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