Variant report

Variant	rs2276974
Chromosome Location	chr4:104119757-104119758
allele	C/T
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	BHLHE40	chr4:104119284-104120139	HepG2	liver:	n/a	n/a
2	YY1	chr4:104119341-104119772	ECC-1	luminal epithelium:	n/a	chr4:104119502-104119512 chr4:104119371-104119380 chr4:104119365-104119379
3	BHLHE40	chr4:104119489-104119835	A549	lung:	n/a	n/a
4	NR2F2	chr4:104118928-104119860	K562	blood:	n/a	n/a
5	CREB1	chr4:104118773-104120136	K562	blood:	n/a	chr4:104119604-104119617
6	POLR2A	chr4:104118978-104120073	MCF-7	breast:	n/a	n/a
7	JUND	chr4:104119259-104119897	H1-hESC	embryonic stem cell:	n/a	chr4:104119653-104119662 chr4:104119606-104119615 chr4:104119546-104119555
8	POLR2A	chr4:104119168-104119767	MCF-7	breast:	n/a	n/a
9	POLR2A	chr4:104119105-104119792	Hela-S3	cervix:	n/a	n/a
10	YY1	chr4:104119011-104119792	K562	blood:	n/a	chr4:104119502-104119512 chr4:104119371-104119380 chr4:104119365-104119379
11	SP1	chr4:104119379-104119893	GM12878	blood:	n/a	chr4:104119548-104119559
12	USF2	chr4:104119417-104119836	GM12878	blood:	n/a	n/a
13	EP300	chr4:104119386-104119952	GM12878	blood:	n/a	chr4:104119654-104119663
14	RFX5	chr4:104119439-104120030	GM12878	blood:	n/a	n/a
15	MAX	chr4:104119444-104119782	K562	blood:	n/a	chr4:104119624-104119631 chr4:104119623-104119632
16	MAZ	chr4:104119268-104119778	Hela-S3	cervix:	n/a	chr4:104119624-104119631 chr4:104119623-104119632
17	HCFC1	chr4:104118967-104119863	K562	blood:	n/a	n/a
18	ZBTB7A	chr4:104119169-104119860	ECC-1	luminal epithelium:	n/a	n/a
19	CHD1	chr4:104119393-104119885	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr4:104119343-104120110	K562	blood:	n/a	n/a
21	ETS1	chr4:104119238-104119816	K562	blood:	n/a	n/a
22	POLR2A	chr4:104119055-104119916	HEK293	kidney:	n/a	n/a
23	SIN3AK20	chr4:104118930-104119945	HCT-116	colon:	n/a	n/a
24	IRF1	chr4:104119129-104119887	K562	blood:	n/a	n/a
25	MAX	chr4:104118911-104119905	MCF-7	breast:	n/a	chr4:104119624-104119631 chr4:104119623-104119632
26	POLR2A	chr4:104118962-104119804	ProgFib	skin:	n/a	n/a
27	MAX	chr4:104118948-104119845	K562	blood:	n/a	chr4:104119624-104119631 chr4:104119623-104119632
28	SP4	chr4:104119490-104119802	H1-hESC	embryonic stem cell:	n/a	chr4:104119548-104119559
29	E2F4	chr4:104119063-104119812	K562	blood:	n/a	chr4:104119605-104119614 chr4:104119607-104119616
30	POLR2A	chr4:104118975-104119811	K562	blood:	n/a	n/a
31	EP300	chr4:104119200-104119953	H1-hESC	embryonic stem cell:	n/a	chr4:104119371-104119380 chr4:104119654-104119663
32	CREB1	chr4:104119198-104120112	HepG2	liver:	n/a	chr4:104119604-104119617
33	CBX3	chr4:104119119-104120149	K562	blood:	n/a	n/a
34	JUND	chr4:104119311-104119772	H1-hESC	embryonic stem cell:	n/a	chr4:104119653-104119662 chr4:104119606-104119615 chr4:104119546-104119555
35	SIX5	chr4:104119337-104120076	A549	lung:	n/a	n/a
36	MAX	chr4:104118936-104119988	SK-N-SH	brain:	n/a	chr4:104119624-104119631 chr4:104119623-104119632
37	ZBTB7A	chr4:104119231-104119828	K562	blood:	n/a	n/a
38	POLR2A	chr4:104119105-104119817	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr4:104119059-104120019	U87	brain:	n/a	n/a
40	MAX	chr4:104118982-104120012	Hela-S3	cervix:	n/a	chr4:104119624-104119631 chr4:104119623-104119632
41	POLR2A	chr4:104119045-104119875	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr4:104119092-104119923	Raji	blood:	n/a	n/a
43	MAFK	chr4:104119663-104119935	HepG2	liver:	n/a	n/a
44	POLR2A	chr4:104119230-104119878	SK-N-MC	brain:	n/a	n/a
45	MXI1	chr4:104119109-104119821	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr4:104119504-104119779	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD1	chr4:104119135-104120190	GM12878	blood:	n/a	chr4:104119350-104119360
48	ZNF384	chr4:104119471-104119997	GM12878	blood:	n/a	n/a
49	FOXM1	chr4:104119152-104120038	ECC-1	luminal epithelium:	n/a	n/a
50	PAX5	chr4:104119296-104119818	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:100741160..100741678-chr4:104118965..104119923,2	HCT-116	colon:

Variant related genes	Relation type
CENPE	TF binding region
ENSG00000175198	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11734396	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12502620	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12505012	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12506575	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17033423	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17217250	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17283278	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243682	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2276975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290943	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2615538	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2615541	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2615542	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2623062	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2623063	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2623069	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2623076	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2623082	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2711888	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2711889	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2711891	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2711893	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2711894	0.80[AMR][1000 genomes]
rs2711895	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2711896	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2711900	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2711901	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720447	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720449	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720451	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720452	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720453	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720455	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720456	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720457	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720463	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720465	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720467	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720470	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3816642	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698879	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55708783	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55777543	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59355472	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs68023422	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6830082	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6847142	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847357	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665085	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72665089	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7435875	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7672974	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9760911	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[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	esv3429917	chr4:103915319-104207455	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1015023	chr4:104039145-104565217	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv830022	chr4:104087199-104257784	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104117800-104120200	Active TSS	NHDF-Ad	bronchial
2	chr4:104118000-104120000	Active TSS	A549	lung
3	chr4:104118000-104120200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr4:104118000-104120200	Active TSS	GM12878-XiMat	blood
5	chr4:104118000-104120400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:104118000-104120400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:104118000-104120400	Active TSS	NHLF	lung
8	chr4:104118200-104119800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:104118200-104119800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:104118200-104120000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr4:104118200-104120200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:104118200-104120200	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr4:104118200-104120200	Active TSS	Fetal Brain Male	brain
14	chr4:104118200-104120200	Active TSS	K562	blood
15	chr4:104118200-104120400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:104118200-104120400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:104118400-104119800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:104118400-104120000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:104118400-104120000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:104118400-104120200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:104118400-104120200	Active TSS	HSMMtube	muscle
22	chr4:104118400-104120200	Active TSS	Osteobl	bone
23	chr4:104118400-104120400	Active TSS	HSMM	muscle
24	chr4:104118600-104119800	Active TSS	HMEC	breast
25	chr4:104118600-104120000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr4:104118600-104120000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:104118600-104120000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:104118600-104120000	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr4:104118600-104120000	Active TSS	Fetal Intestine Large	intestine
30	chr4:104118600-104120200	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr4:104118600-104120200	Active TSS	H9 Cell Line	embryonic stem cell
32	chr4:104118600-104120200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:104118600-104120200	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr4:104118600-104120200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:104118600-104120200	Active TSS	Hela-S3	cervix
36	chr4:104118600-104120400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:104118600-104120400	Active TSS	Fetal Muscle Leg	muscle
38	chr4:104118800-104119800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:104118800-104119800	Active TSS	Dnd41	blood
40	chr4:104118800-104119800	Active TSS	HUVEC	blood vessel
41	chr4:104118800-104119800	Active TSS	NH-A	brain
42	chr4:104118800-104120000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:104118800-104120000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:104118800-104120000	Active TSS	Muscle Satellite Cultured Cells	--
45	chr4:104118800-104120000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:104118800-104120000	Active TSS	Fetal Heart	heart
47	chr4:104118800-104120200	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr4:104118800-104120200	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr4:104118800-104120200	Active TSS	Aorta	Aorta
50	chr4:104118800-104120200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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