Variant report

Variant	rs2233841
Chromosome Location	chr1:151319869-151319870
allele	A/C
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	RFX5	chr1:151318526-151320878	K562	blood:	n/a	chr1:151319898-151319907
2	SPI1	chr1:151319830-151320083	K562	blood:	n/a	n/a
3	POLR2A	chr1:151318989-151320181	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr1:151319121-151320127	K562	blood:	n/a	n/a
5	POLR2A	chr1:151319212-151320101	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:151319066-151320064	H1-neurons	neurons:	n/a	n/a
7	BHLHE40	chr1:151319205-151320261	GM12878	blood:	n/a	n/a
8	YY1	chr1:151319650-151319891	K562	blood:	n/a	n/a
9	SP4	chr1:151319192-151320050	H1-hESC	embryonic stem cell:	n/a	chr1:151319614-151319625
10	MAX	chr1:151319143-151320386	K562	blood:	n/a	chr1:151319544-151319554
11	POLR2A	chr1:151319433-151320037	Hela-S3	cervix:	n/a	n/a
12	MAZ	chr1:151319150-151320327	K562	blood:	n/a	n/a
13	MAFK	chr1:151319418-151320126	Hela-S3	cervix:	n/a	n/a
14	NFYB	chr1:151319417-151320116	Hela-S3	cervix:	n/a	chr1:151319817-151319829 chr1:151319815-151319830 chr1:151319816-151319826 chr1:151319896-151319910 chr1:151319895-151319910 chr1:151319897-151319910 chr1:151319899-151319911 chr1:151319895-151319910 chr1:151319814-151319828 chr1:151319898-151319908
15	MAX	chr1:151319191-151320483	HCT-116	colon:	n/a	chr1:151319544-151319554
16	IRF3	chr1:151319635-151320035	GM12878	blood:	n/a	chr1:151319967-151319981 chr1:151319674-151319685 chr1:151319669-151319683 chr1:151319673-151319683 chr1:151319968-151319978 chr1:151319963-151319976 chr1:151319671-151319685 chr1:151319967-151319981
17	BCL3	chr1:151319300-151320242	A549	lung:	n/a	chr1:151319917-151319926 chr1:151319339-151319352 chr1:151319953-151319962
18	E2F6	chr1:151319214-151320278	A549	lung:	n/a	chr1:151319404-151319413
19	BCL3	chr1:151319215-151320071	GM12878	blood:	n/a	chr1:151319917-151319926 chr1:151319339-151319352 chr1:151319953-151319962
20	TBL1XR1	chr1:151318994-151320357	K562	blood:	n/a	n/a
21	NFYA	chr1:151319383-151320115	Hela-S3	cervix:	n/a	chr1:151319817-151319829 chr1:151319816-151319826 chr1:151319896-151319910 chr1:151319895-151319910 chr1:151319897-151319910 chr1:151319899-151319911 chr1:151319895-151319910 chr1:151319814-151319828 chr1:151319898-151319908
22	CHD1	chr1:151318391-151320339	GM12878	blood:	n/a	n/a
23	ATF1	chr1:151319194-151320019	K562	blood:	n/a	n/a
24	EP300	chr1:151319653-151320141	K562	blood:	n/a	chr1:151319668-151319682 chr1:151319865-151319874
25	BCLAF1	chr1:151319064-151320339	GM12878	blood:	n/a	chr1:151319917-151319926 chr1:151319339-151319352 chr1:151319953-151319962
26	POLR2A	chr1:151318162-151320843	GM12891	blood:	n/a	n/a
27	NFATC1	chr1:151318852-151320382	GM12878	blood:	n/a	n/a
28	USF1	chr1:151319277-151319921	SK-N-SH_RA	brain:	n/a	n/a
29	CREB1	chr1:151318982-151320152	K562	blood:	n/a	n/a
30	SIX5	chr1:151319855-151320284	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:151319108-151320422	GM18951	blood:	n/a	n/a
32	E2F4	chr1:151319811-151320267	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:151319047-151320816	H1-hESC	embryonic stem cell:	n/a	n/a
34	RELA	chr1:151319231-151320477	GM12892	blood:	n/a	n/a
35	ATF2	chr1:151319041-151320532	GM12878	blood:	n/a	n/a
36	MYC	chr1:151319198-151320020	MCF10A-Er-Src	breast:	n/a	chr1:151319544-151319554
37	NFYB	chr1:151319330-151320137	GM12878	blood:	n/a	chr1:151319817-151319829 chr1:151319815-151319830 chr1:151319816-151319826 chr1:151319896-151319910 chr1:151319895-151319910 chr1:151319897-151319910 chr1:151319899-151319911 chr1:151319895-151319910 chr1:151319814-151319828 chr1:151319898-151319908
38	E2F6	chr1:151319284-151320078	A549	lung:	n/a	chr1:151319404-151319413
39	CHD2	chr1:151319128-151320278	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr1:151318153-151320828	GM12878	blood:	n/a	n/a
41	TBP	chr1:151319237-151320136	K562	blood:	n/a	n/a
42	EBF1	chr1:151319766-151320299	GM12878	blood:	n/a	chr1:151320004-151320015
43	CBX3	chr1:151319125-151320378	K562	blood:	n/a	n/a
44	MAX	chr1:151319339-151320037	Hela-S3	cervix:	n/a	chr1:151319544-151319554
45	SRF	chr1:151318961-151320329	MCF-7	breast:	n/a	n/a
46	MAX	chr1:151319124-151320374	A549	lung:	n/a	chr1:151319544-151319554
47	BATF	chr1:151319304-151320096	GM12878	blood:	n/a	n/a
48	MAX	chr1:151319168-151320221	HepG2	liver:	n/a	chr1:151319544-151319554
49	NFIC	chr1:151319021-151320287	GM12878	blood:	n/a	n/a
50	FOS	chr1:151319619-151320110	MCF10A-Er-Src	breast:	n/a	chr1:151319897-151319906

No.	Distal block	Cell Line	Cell type
1	chr1:151298559..151302678-chr1:151316998..151321426,11	MCF-7	breast:
2	chr1:151317602..151320403-chr1:151337333..151341038,5	MCF-7	breast:
3	chr1:151298650..151301104-chr1:151317671..151320176,4	MCF-7	breast:
4	1:151309061-151322694..1:151592347-151603110	GM12878	blood:
5	chr1:151318199..151320967-chr1:151371516..151373553,2	K562	blood:
6	chr1:151264932..151267959-chr1:151318358..151320538,3	MCF-7	breast:
7	chr1:151319574..151321193-chr1:151343801..151346115,3	MCF-7	breast:
8	chr1:151317711..151320188-chr1:151340050..151342553,3	K562	blood:
9	chr1:151319505..151321169-chr1:151370320..151372349,2	MCF-7	breast:
10	chr1:151298409..151301460-chr1:151318358..151322178,4	K562	blood:
11	chr1:151318180..151322621-chr1:151370786..151375600,7	K562	blood:
12	chr1:151253402..151256437-chr1:151318501..151320102,3	MCF-7	breast:
13	chr1:151253871..151258133-chr1:151311236..151320814,17	K562	blood:
14	1:151171193-151178589..1:151309061-151322694	Hela-S3	cervix:
15	chr1:151253042..151255866-chr1:151318395..151322175,4	K562	blood:
16	chr1:151319500..151320189-chr11:67210733..67211584,2	Hela-S3	cervix:
17	chr1:151319317..151320120-chr9:91925671..91926448,2	Hela-S3	cervix:
18	chr1:151317450..151322791-chr1:151370457..151374000,10	MCF-7	breast:
19	chr1:151319339..151321545-chr17:56707745..56710309,2	MCF-7	breast:
20	chr1:151252248..151255623-chr1:151318407..151321879,5	MCF-7	breast:

Variant related genes	Relation type
RFX5	TF binding region
ENSG00000143393	Chromatin interaction
ENSG00000273481	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000123975	Chromatin interaction
ENSG00000172725	Chromatin interaction
ENSG00000143416	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000232671	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2233842	1.00[AMR][1000 genomes]
rs2233850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35954676	1.00[AMR][1000 genomes]
rs41299615	1.00[AMR][1000 genomes]
rs7517596	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
3	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv438026	chr1:151318733-151344703	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151318600-151320200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:151318600-151320200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:151318600-151320200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr1:151318600-151320200	Active TSS	Esophagus	oesophagus
5	chr1:151318600-151320400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:151318600-151320400	Active TSS	GM12878-XiMat	blood
7	chr1:151318800-151320000	Active TSS	HSMM	muscle
8	chr1:151318800-151320200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr1:151318800-151320200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:151318800-151320200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:151318800-151320200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:151318800-151320200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr1:151318800-151320200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:151318800-151320200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:151318800-151320200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr1:151318800-151320200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:151318800-151320200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:151318800-151320200	Active TSS	Pancreas	Pancrea
19	chr1:151318800-151320200	Active TSS	Right Atrium	heart
20	chr1:151318800-151320200	Active TSS	Thymus	Thymus
21	chr1:151318800-151320200	Active TSS	A549	lung
22	chr1:151318800-151320200	Active TSS	NHDF-Ad	bronchial
23	chr1:151318800-151320400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:151318800-151320400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:151318800-151320400	Active TSS	Fetal Muscle Trunk	muscle
26	chr1:151318800-151320600	Active TSS	H9 Cell Line	embryonic stem cell
27	chr1:151319000-151320000	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:151319000-151320000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:151319000-151320000	Active TSS	Brain Cingulate Gyrus	brain
30	chr1:151319000-151320000	Active TSS	Brain Germinal Matrix	brain
31	chr1:151319000-151320000	Active TSS	Rectal Smooth Muscle	rectum
32	chr1:151319000-151320000	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr1:151319000-151320000	Active TSS	Dnd41	blood
34	chr1:151319000-151320200	Active TSS	H1 Cell Line	embryonic stem cell
35	chr1:151319000-151320200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:151319000-151320200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:151319000-151320200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:151319000-151320200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:151319000-151320200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:151319000-151320200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr1:151319000-151320200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:151319000-151320200	Active TSS	Muscle Satellite Cultured Cells	--
43	chr1:151319000-151320200	Active TSS	Brain Hippocampus Middle	brain
44	chr1:151319000-151320200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:151319000-151320200	Active TSS	Brain Substantia Nigra	brain
46	chr1:151319000-151320200	Active TSS	Colonic Mucosa	Colon
47	chr1:151319000-151320200	Active TSS	Duodenum Mucosa	Duodenum
48	chr1:151319000-151320200	Active TSS	Fetal Intestine Large	intestine
49	chr1:151319000-151320200	Active TSS	Fetal Lung	lung
50	chr1:151319000-151320200	Active TSS	Left Ventricle	heart

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