Variant report

Variant	rs34864652
Chromosome Location	chr1:11025291-11025292
allele	A/G
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	SP1	chr1:11024831-11025780	GM12878	blood:	n/a	n/a
2	WRNIP1	chr1:11025088-11026330	GM12878	blood:	n/a	n/a
3	SPI1	chr1:11025191-11025551	K562	blood:	n/a	chr1:11025389-11025402 chr1:11025391-11025400 chr1:11025388-11025401 chr1:11025272-11025279 chr1:11025388-11025401
4	MTA3	chr1:11024906-11025659	GM12878	blood:	n/a	n/a
5	BCLAF1	chr1:11024891-11025576	GM12878	blood:	n/a	chr1:11025275-11025284
6	BATF	chr1:11024830-11025420	GM12878	blood:	n/a	n/a
7	NFYB	chr1:11025076-11025412	GM12878	blood:	n/a	n/a
8	EBF1	chr1:11024962-11026329	GM12878	blood:	n/a	n/a
9	PBX3	chr1:11025147-11025307	GM12878	blood:	n/a	n/a
10	TCF3	chr1:11024999-11025543	GM12878	blood:	n/a	n/a
11	ZNF384	chr1:11024978-11026547	GM12878	blood:	n/a	n/a
12	YY1	chr1:11024889-11025350	GM12878	blood:	n/a	n/a
13	SPI1	chr1:11025020-11025551	GM12878	blood:	n/a	chr1:11025389-11025402 chr1:11025391-11025400 chr1:11025388-11025401 chr1:11025272-11025279 chr1:11025388-11025401
14	SPI1	chr1:11025049-11025581	GM12891	blood:	n/a	chr1:11025389-11025402 chr1:11025391-11025400 chr1:11025388-11025401 chr1:11025272-11025279 chr1:11025388-11025401
15	MXI1	chr1:11025039-11025389	GM12878	blood:	n/a	n/a
16	CHD2	chr1:11025056-11026183	GM12878	blood:	n/a	n/a
17	EP300	chr1:11025059-11025467	GM12878	blood:	n/a	chr1:11025390-11025404 chr1:11025270-11025284
18	EBF1	chr1:11024391-11026277	GM12878	blood:	n/a	chr1:11024617-11024628
19	RUNX3	chr1:11024890-11026646	GM12878	blood:	n/a	n/a
20	SPI1	chr1:11025123-11025477	GM12878	blood:	n/a	chr1:11025389-11025402 chr1:11025391-11025400 chr1:11025388-11025401 chr1:11025272-11025279 chr1:11025388-11025401
21	EP300	chr1:11024921-11026275	GM12878	blood:	n/a	chr1:11025390-11025404 chr1:11025270-11025284
22	PML	chr1:11024842-11026300	GM12878	blood:	n/a	n/a
23	PAX5	chr1:11024865-11026199	GM12878	blood:	n/a	chr1:11025275-11025284 chr1:11025272-11025281
24	STAT5A	chr1:11024870-11026344	GM12878	blood:	n/a	chr1:11025161-11025173 chr1:11025308-11025316
25	RCOR1	chr1:11024523-11026459	GM12878	blood:	n/a	n/a
26	MTA3	chr1:11024854-11026674	GM12878	blood:	n/a	n/a
27	ELF1	chr1:11024902-11025477	GM12878	blood:	n/a	chr1:11025389-11025400
28	BCLAF1	chr1:11024897-11025559	GM12878	blood:	n/a	chr1:11025275-11025284
29	EBF1	chr1:11024973-11025336	GM12878	blood:	n/a	n/a
30	TBL1XR1	chr1:11024986-11026324	GM12878	blood:	n/a	n/a
31	MAX	chr1:11024981-11025479	GM12878	blood:	n/a	n/a
32	PAX5	chr1:11025035-11025350	GM12878	blood:	n/a	chr1:11025275-11025284 chr1:11025272-11025281
33	SPI1	chr1:11025273-11025521	K562	blood:	n/a	chr1:11025389-11025402 chr1:11025391-11025400 chr1:11025388-11025401 chr1:11025388-11025401
34	RELA	chr1:11025054-11026632	GM19193	blood:	n/a	n/a
35	POLR2A	chr1:11025094-11025562	HL-60	blood:	n/a	n/a
36	RCOR1	chr1:11024808-11025338	IMR90	lung:	n/a	n/a
37	NFIC	chr1:11024841-11025873	GM12878	blood:	n/a	n/a
38	NFIC	chr1:11024826-11026738	GM12878	blood:	n/a	n/a
39	RELA	chr1:11024990-11026778	GM18951	blood:	n/a	n/a
40	IRF4	chr1:11024799-11025375	GM12878	blood:	n/a	n/a
41	SPI1	chr1:11024798-11026179	GM12878	blood:	n/a	chr1:11025389-11025402 chr1:11025391-11025400 chr1:11025388-11025401 chr1:11025272-11025279 chr1:11025388-11025401
42	NFATC1	chr1:11024859-11025433	GM12878	blood:	n/a	n/a
43	SPI1	chr1:11025117-11025619	HL-60	blood:	n/a	chr1:11025389-11025402 chr1:11025391-11025400 chr1:11025388-11025401 chr1:11025272-11025279 chr1:11025388-11025401
44	MAX	chr1:11025038-11025414	NB4	blood:	n/a	n/a
45	CHD1	chr1:11025004-11025647	GM12878	blood:	n/a	n/a
46	FOXM1	chr1:11024874-11026343	GM12878	blood:	n/a	n/a
47	STAT3	chr1:11024976-11025377	GM12878	blood:	n/a	chr1:11025161-11025173 chr1:11025308-11025316
48	BATF	chr1:11024905-11025349	GM12878	blood:	n/a	n/a
49	RELA	chr1:11024963-11026622	GM12891	blood:	n/a	n/a
50	POU2F2	chr1:11025023-11025420	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:11025263-11025313	NT2-D1	testis:	n/a
2	chr1:11025263-11025313	H1-hESC	embryonic stem cell:	embryo
3	chr1:11025263-11025313	MCF-7	breast:	n/a
4	chr1:11025263-11025313	HMEC	breast:	n/a
5	chr1:11025263-11025313	HRPEpiC	eye:	n/a
6	chr1:11025263-11025313	HepG2	liver:	n/a
7	chr1:11025263-11025313	SK-N-MC	brain:	n/a
8	chr1:11025263-11025313	HRE	kidney:	n/a
9	chr1:11025263-11025313	HAEpiC	amniotic membrane:	n/a
10	chr1:11025263-11025313	HEEpiC	esophagus:	n/a
11	chr1:11025263-11025313	NHBE	bronchial:	n/a
12	chr1:11025263-11025313	BJ	skin:	n/a
13	chr1:11025263-11025313	T-47D	breast:	n/a
14	chr1:11025263-11025313	AG04450	lung:	fetal
15	chr1:11025263-11025313	NB4	blood:	n/a
16	chr1:11025263-11025313	IMR90	lung:	fetal
17	chr1:11025263-11025313	AG09319	gingival:	n/a
18	chr1:11025263-11025313	Hela-S3	cervix:	n/a
19	chr1:11025263-11025313	PANC-1	pancreas:	n/a
20	chr1:11025263-11025313	Jurkat	blood:	n/a
21	chr1:11025263-11025313	AG04449	skin:	fetal
22	chr1:11025263-11025313	HEK293	kidney:	embryo
23	chr1:11025263-11025313	GM12878	blood:	n/a
24	chr1:11025263-11025313	GM12892	blood:	n/a
25	chr1:11025263-11025313	HCM	heart:	n/a
26	chr1:11025263-11025313	HRCEpiC	kidney:	n/a
27	chr1:11025263-11025313	HCPEpiC	choroid plexus:	n/a
28	chr1:11025263-11025313	SK-N-SH_RA	brain:	n/a
29	chr1:11025263-11025313	AG10803	skin:	n/a
30	chr1:11025263-11025313	A549	lung:	n/a
31	chr1:11025263-11025313	K562	blood:	n/a
32	chr1:11025263-11025313	Hepatocyte	liver:	n/a
33	chr1:11025263-11025313	ProgFib	skin:	n/a
34	chr1:11025263-11025313	HPAEpiC	pulmonary alveolar:	n/a
35	chr1:11025263-11025313	PFSK-1	brain:	n/a
36	chr1:11025263-11025313	CMK	blood:	n/a
37	chr1:11025263-11025313	HUVEC	blood vessel:	n/a
38	chr1:11025263-11025313	HIPEpiC	eye:	n/a
39	chr1:11025263-11025313	SKMC	muscle:	n/a
40	chr1:11025263-11025313	HCF	heart:	n/a
41	chr1:11025263-11025313	LNCaP	prostate:	n/a
42	chr1:11025263-11025313	ovcar-3	ovarian:	n/a
43	chr1:11025263-11025313	SK-N-SH	brain:	n/a
44	chr1:11025263-11025313	ECC-1	luminal epithelium:	n/a
45	chr1:11025263-11025313	MCF10A-Er-Src	breast:	n/a
46	chr1:11025263-11025313	RPTEC	kidney:	n/a
47	chr1:11025263-11025313	U87	brain:	n/a
48	chr1:11025263-11025313	GM19239	blood:	n/a
49	chr1:11025263-11025313	AoSMC	blood vessel:	n/a
50	chr1:11025263-11025313	GM06990	blood:	n/a

Variant related genes	Relation type
C1orf127	TF binding region
C1orf127	CpG island

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11121622	1.00[AFR][1000 genomes]
rs12739664	1.00[AFR][1000 genomes]
rs35851954	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529981	chr1:10697093-11353487	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv2757723	chr1:10742502-11055147	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758921	chr1:10742502-11055147	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv1825837	chr1:10887923-11093741	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv832425	chr1:10903845-11122975	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:11018200-11028200	Weak transcription	Right Atrium	heart
2	chr1:11019000-11029200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:11021200-11025400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:11021400-11025400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:11021400-11025600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:11021400-11025600	Weak transcription	Esophagus	oesophagus
7	chr1:11021600-11025600	Weak transcription	Colonic Mucosa	Colon
8	chr1:11021600-11028400	Weak transcription	Brain Substantia Nigra	brain
9	chr1:11021800-11025600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:11021800-11028200	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:11022800-11029000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:11023000-11025400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:11023000-11025600	Weak transcription	Stomach Mucosa	stomach
14	chr1:11023000-11028200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:11023200-11025800	Weak transcription	Liver	Liver
16	chr1:11023200-11028200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:11023200-11028400	Weak transcription	Pancreas	Pancrea
18	chr1:11023800-11026800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:11023800-11027400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:11024400-11026600	Enhancers	Primary B cells from peripheral blood	blood
21	chr1:11024600-11026200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr1:11024600-11026600	Enhancers	Primary B cells from cord blood	blood
23	chr1:11024600-11028600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:11024800-11026200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr1:11025000-11025400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr1:11025000-11025400	Enhancers	Hela-S3	cervix
27	chr1:11025000-11026200	Enhancers	Primary T cells from cord blood	blood
28	chr1:11025000-11026200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr1:11025000-11026200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr1:11025000-11026200	Enhancers	Thymus	Thymus
31	chr1:11025000-11026400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:11025000-11026400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr1:11025000-11026600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr1:11025000-11026600	Enhancers	Fetal Thymus	thymus
35	chr1:11025000-11026600	Flanking Active TSS	GM12878-XiMat	blood
36	chr1:11025000-11027000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr1:11025200-11025400	Enhancers	Primary hematopoietic stem cells	blood
38	chr1:11025200-11025400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr1:11025200-11025600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr1:11025200-11025800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:11025200-11025800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr1:11025200-11025800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr1:11025200-11026200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr1:11025200-11026200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr1:11025200-11026200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:11025200-11026200	Enhancers	Fetal Lung	lung
47	chr1:11025200-11026200	Enhancers	Lung	lung
48	chr1:11025200-11026200	Enhancers	Spleen	Spleen

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