Variant report

Variant	rs4073603
Chromosome Location	chr2:233924923-233924924
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	RELA	chr2:233924726-233927356	GM18951	blood:	n/a	n/a
2	POLR2A	chr2:233924867-233925197	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:233924233-233929847	GM18505	blood:	n/a	n/a
4	YY1	chr2:233924735-233925321	GM12878	blood:	n/a	chr2:233924896-233924907 chr2:233925155-233925169
5	POLR2A	chr2:233924265-233927493	GM12891	blood:	n/a	n/a
6	POLR2A	chr2:233924311-233930017	GM12891	blood:	n/a	n/a
7	MAX	chr2:233924517-233926909	GM12878	blood:	n/a	chr2:233924691-233924701 chr2:233925175-233925184
8	BHLHE40	chr2:233924867-233925064	K562	blood:	n/a	n/a
9	TCF3	chr2:233924766-233925367	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:233924902-233925561	HepG2	liver:	n/a	n/a
11	TCF12	chr2:233924871-233925147	GM12878	blood:	n/a	n/a
12	POU2F2	chr2:233924863-233925356	GM12878	blood:	n/a	n/a
13	BCLAF1	chr2:233924715-233925333	GM12878	blood:	n/a	chr2:233925117-233925126
14	SPI1	chr2:233924734-233925259	GM12891	blood:	n/a	chr2:233924987-233924996 chr2:233925034-233925047 chr2:233924985-233924998 chr2:233925037-233925046 chr2:233924984-233924997
15	NFIC	chr2:233924768-233925269	GM12878	blood:	n/a	n/a
16	RUNX3	chr2:233924334-233927486	GM12878	blood:	n/a	chr2:233926986-233926995
17	PML	chr2:233924881-233925205	GM12878	blood:	n/a	n/a
18	SIN3AK20	chr2:233924870-233925317	HepG2	liver:	n/a	n/a
19	BCL11A	chr2:233924812-233925130	GM12878	blood:	n/a	chr2:233925117-233925126
20	STAT1	chr2:233924626-233925456	GM12878	blood:	n/a	chr2:233925009-233925020 chr2:233925040-233925047
21	TAF1	chr2:233924762-233925237	GM12891	blood:	n/a	n/a
22	RELA	chr2:233924391-233927017	GM15510	blood:	n/a	n/a
23	CTCF	chr2:233924920-233925070	GM12866	blood:	n/a	n/a
24	REST	chr2:233924876-233925244	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:233924706-233925382	K562	blood:	n/a	n/a
26	CHD2	chr2:233924376-233925512	GM12878	blood:	n/a	n/a
27	POLR2A	chr2:233924270-233929959	NB4	blood:	n/a	n/a
28	SPI1	chr2:233924789-233925291	HL-60	blood:	n/a	chr2:233924987-233924996 chr2:233925034-233925047 chr2:233924985-233924998 chr2:233925037-233925046 chr2:233924984-233924997
29	POLR2A	chr2:233924280-233929205	GM15510	blood:	n/a	n/a
30	SPI1	chr2:233924880-233925183	K562	blood:	n/a	chr2:233924987-233924996 chr2:233925034-233925047 chr2:233924985-233924998 chr2:233925037-233925046 chr2:233924984-233924997
31	TAF1	chr2:233924842-233925213	GM12892	blood:	n/a	n/a
32	MYBL2	chr2:233924742-233925654	HepG2	liver:	n/a	n/a
33	TAF1	chr2:233924777-233925337	GM12892	blood:	n/a	n/a
34	SPI1	chr2:233924812-233925201	GM12878	blood:	n/a	chr2:233924987-233924996 chr2:233925034-233925047 chr2:233924985-233924998 chr2:233925037-233925046 chr2:233924984-233924997
35	ATF2	chr2:233924703-233925343	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:233924290-233929787	GM12892	blood:	n/a	n/a
37	POLR2A	chr2:233924785-233925262	PFSK-1	brain:	n/a	n/a
38	POU2F2	chr2:233924758-233925632	GM12891	blood:	n/a	n/a
39	POLR2A	chr2:233924577-233927554	GM12892	blood:	n/a	n/a
40	PAX5	chr2:233924742-233925374	GM12878	blood:	n/a	n/a
41	BHLHE40	chr2:233924326-233925570	HepG2	liver:	n/a	chr2:233924458-233924474
42	MXI1	chr2:233924314-233925641	HepG2	liver:	n/a	chr2:233924692-233924701
43	YY1	chr2:233924879-233925098	K562	blood:	n/a	chr2:233924896-233924907
44	POLR2A	chr2:233924284-233925456	HepG2	liver:	n/a	n/a
45	CCNT2	chr2:233924903-233925205	K562	blood:	n/a	n/a
46	TAF1	chr2:233924825-233925231	GM12878	blood:	n/a	n/a
47	MYC	chr2:233924250-233925518	NB4	blood:	n/a	chr2:233924691-233924701 chr2:233925175-233925184
48	SPI1	chr2:233924863-233925163	K562	blood:	n/a	chr2:233924987-233924996 chr2:233925034-233925047 chr2:233924985-233924998 chr2:233925037-233925046 chr2:233924984-233924997
49	ELF1	chr2:233924877-233925195	K562	blood:	n/a	chr2:233925035-233925046 chr2:233924984-233924997 chr2:233925034-233925047
50	CHD1	chr2:233924470-233926942	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:233924923-233924973	HNPCEpiC	eye:	n/a
2	chr2:233924923-233924973	HepG2	liver:	n/a
3	chr2:233924923-233924973	BJ	skin:	n/a
4	chr2:233924923-233924973	GM06990	blood:	n/a
5	chr2:233924923-233924973	AG09309	skin:	n/a
6	chr2:233924923-233924973	ProgFib	skin:	n/a
7	chr2:233924923-233924973	PrEC	prostate:	n/a
8	chr2:233924923-233924973	HEEpiC	esophagus:	n/a
9	chr2:233924923-233924973	HCT-116	colon:	n/a
10	chr2:233924923-233924973	GM12891	blood:	n/a
11	chr2:233924923-233924973	NB4	blood:	n/a
12	chr2:233924923-233924973	NHDF-neo	bronchial:	n/a
13	chr2:233924923-233924973	Hepatocyte	liver:	n/a
14	chr2:233924923-233924973	HIPEpiC	eye:	n/a
15	chr2:233924923-233924973	RPTEC	kidney:	n/a
16	chr2:233924923-233924973	H1-hESC	embryonic stem cell:	embryo
17	chr2:233924923-233924973	HCF	heart:	n/a
18	chr2:233924923-233924973	NHBE	bronchial:	n/a
19	chr2:233924923-233924973	IMR90	lung:	fetal
20	chr2:233924923-233924973	SKMC	muscle:	n/a
21	chr2:233924923-233924973	MCF-7	breast:	n/a
22	chr2:233924923-233924973	HL-60	blood:	n/a
23	chr2:233924923-233924973	MCF10A-Er-Src	breast:	n/a
24	chr2:233924923-233924973	LNCaP	prostate:	n/a
25	chr2:233924923-233924973	CMK	blood:	n/a
26	chr2:233924923-233924973	Caco-2	colon:	n/a
27	chr2:233924923-233924973	T-47D	breast:	n/a
28	chr2:233924923-233924973	HCPEpiC	choroid plexus:	n/a
29	chr2:233924923-233924973	GM19239	blood:	n/a
30	chr2:233924923-233924973	PANC-1	pancreas:	n/a
31	chr2:233924923-233924973	A549	lung:	n/a
32	chr2:233924923-233924973	HCM	heart:	n/a
33	chr2:233924923-233924973	AG09319	gingival:	n/a
34	chr2:233924923-233924973	GM12892	blood:	n/a
35	chr2:233924923-233924973	AG04449	skin:	fetal
36	chr2:233924923-233924973	HRPEpiC	eye:	n/a
37	chr2:233924923-233924973	HRCEpiC	kidney:	n/a
38	chr2:233924923-233924973	GM12878	blood:	n/a
39	chr2:233924923-233924973	PFSK-1	brain:	n/a
40	chr2:233924923-233924973	ovcar-3	ovarian:	n/a
41	chr2:233924923-233924973	HEK293	kidney:	embryo
42	chr2:233924923-233924973	U87	brain:	n/a
43	chr2:233924923-233924973	NT2-D1	testis:	n/a
44	chr2:233924923-233924973	BE2_C	brain:	n/a
45	chr2:233924923-233924973	SK-N-SH_RA	brain:	n/a
46	chr2:233924923-233924973	HPAEpiC	pulmonary alveolar:	n/a
47	chr2:233924923-233924973	SK-N-SH	brain:	n/a
48	chr2:233924923-233924973	HUVEC	blood vessel:	n/a
49	chr2:233924923-233924973	AG04450	lung:	fetal
50	chr2:233924923-233924973	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:77157176..77158389-chr2:233924667..233925187,4	MCF-7	breast:

Variant related genes	Relation type
INPP5D	TF binding region
INPP5D	CpG island
ENSG00000186908	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10211511	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694923	0.90[EUR][1000 genomes]
rs13017176	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017623	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391656	0.82[ASN][1000 genomes]
rs13392069	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401226	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13408428	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13408980	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2344913	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28574597	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34177313	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34383725	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34513284	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34779565	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35213087	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35237010	0.82[ASN][1000 genomes]
rs35487055	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4405750	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4439944	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56279626	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62194574	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759511	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917223	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917354	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917366	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917368	0.82[AMR][1000 genomes];0.95[EUR][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	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233914400-233926600	Weak transcription	HSMMtube	muscle
2	chr2:233917000-233925800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:233917400-233926000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:233919000-233925200	Weak transcription	Brain Angular Gyrus	brain
5	chr2:233919000-233925200	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:233919200-233925200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:233922400-233926200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:233923000-233927800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:233923400-233925000	Enhancers	Spleen	Spleen
10	chr2:233924000-233925000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:233924000-233925000	Enhancers	Lung	lung
12	chr2:233924000-233925000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr2:233924200-233925000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr2:233924200-233925000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr2:233924200-233925000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr2:233924200-233925000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:233924200-233925000	Enhancers	Fetal Intestine Large	intestine
18	chr2:233924200-233925000	Enhancers	Fetal Intestine Small	intestine
19	chr2:233924200-233925000	Enhancers	Fetal Stomach	stomach
20	chr2:233924200-233925000	Flanking Active TSS	Dnd41	blood
21	chr2:233924200-233925000	Flanking Active TSS	GM12878-XiMat	blood
22	chr2:233924200-233925400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:233924400-233925000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr2:233924400-233925000	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr2:233924400-233925000	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr2:233924400-233925000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr2:233924400-233925000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr2:233924400-233925000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:233924400-233925000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr2:233924400-233925000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr2:233924400-233925000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:233924400-233925000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:233924400-233925000	Flanking Active TSS	Thymus	Thymus
34	chr2:233924400-233925600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:233924400-233926800	Enhancers	K562	blood
36	chr2:233924400-233927200	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr2:233924400-233927200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:233924400-233928800	Active TSS	Brain Hippocampus Middle	brain
39	chr2:233924600-233925000	Flanking Active TSS	Placenta	Placenta
40	chr2:233924600-233925000	Flanking Active TSS	Fetal Thymus	thymus
41	chr2:233924600-233925000	Enhancers	Pancreas	Pancrea
42	chr2:233924600-233925200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:233924600-233925600	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr2:233924600-233925600	Flanking Bivalent TSS/Enh	HepG2	liver
45	chr2:233924600-233926200	Active TSS	Left Ventricle	heart
46	chr2:233924600-233927000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr2:233924600-233927000	Active TSS	Stomach Smooth Muscle	stomach
48	chr2:233924600-233928000	Active TSS	Brain Anterior Caudate	brain
49	chr2:233924600-233929200	Active TSS	Rectal Smooth Muscle	rectum
50	chr2:233924800-233925000	Active TSS	Colonic Mucosa	Colon

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