Variant report

Variant	rs543438548
Chromosome Location	chr7:50344389-50344390
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	POLR2A	chr7:50343347-50345141	NB4	blood:	n/a	n/a
2	POLR2A	chr7:50343460-50344916	GM19099	blood:	n/a	n/a
3	POLR2A	chr7:50343654-50345433	HL-60	blood:	n/a	n/a
4	UBTF	chr7:50343511-50344911	K562	blood:	n/a	n/a
5	MAX	chr7:50343854-50344841	GM12878	blood:	n/a	n/a
6	CTCF	chr7:50344380-50344530	GM12866	blood:	n/a	n/a
7	MYC	chr7:50343335-50345459	K562	blood:	n/a	n/a
8	POLR2A	chr7:50343548-50344786	K562	blood:	n/a	n/a
9	CHD1	chr7:50344114-50345518	GM12878	blood:	n/a	chr7:50344206-50344216 chr7:50344413-50344423
10	POLR2A	chr7:50343782-50344750	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:50343682-50345250	GM10847	blood:	n/a	n/a
12	TAF1	chr7:50343869-50344531	K562	blood:	n/a	n/a
13	POLR2A	chr7:50343226-50345248	GM18951	blood:	n/a	n/a
14	POLR2A	chr7:50343402-50345359	GM18505	blood:	n/a	n/a
15	ELF1	chr7:50343883-50344537	GM12878	blood:	n/a	n/a
16	MYC	chr7:50343702-50345253	K562	blood:	n/a	n/a
17	POLR2A	chr7:50343479-50344532	GM12878	blood:	n/a	n/a
18	CEBPB	chr7:50344096-50344424	K562	blood:	n/a	chr7:50344264-50344275
19	MTA3	chr7:50344043-50345400	GM12878	blood:	n/a	n/a
20	HMGN3	chr7:50342879-50344476	K562	blood:	n/a	n/a
21	GTF2B	chr7:50344304-50344730	K562	blood:	n/a	n/a
22	POLR2A	chr7:50343022-50344882	GM19193	blood:	n/a	n/a
23	BHLHE40	chr7:50343216-50344727	GM12878	blood:	n/a	chr7:50344200-50344216 chr7:50343966-50343982
24	HEY1	chr7:50344059-50344392	K562	blood:	n/a	n/a
25	SIN3A	chr7:50343975-50344785	H1-hESC	embryonic stem cell:	n/a	chr7:50344199-50344210
26	YY1	chr7:50343884-50344404	GM12892	blood:	n/a	chr7:50344205-50344214
27	E2F6	chr7:50342898-50344783	K562	blood:	n/a	chr7:50343421-50343430 chr7:50344179-50344186 chr7:50344205-50344217 chr7:50344179-50344186 chr7:50344034-50344048 chr7:50344205-50344214 chr7:50344037-50344051 chr7:50344179-50344186
28	ZNF143	chr7:50343735-50344819	GM12878	blood:	n/a	n/a
29	MAX	chr7:50343279-50345435	NB4	blood:	n/a	n/a
30	RCOR1	chr7:50344313-50344746	K562	blood:	n/a	n/a
31	CHD2	chr7:50344130-50344399	GM12878	blood:	n/a	chr7:50344206-50344216
32	IRF1	chr7:50344237-50345095	K562	blood:	n/a	n/a
33	JUND	chr7:50343813-50344716	K562	blood:	n/a	chr7:50344261-50344273 chr7:50344527-50344539
34	E2F6	chr7:50344105-50344799	H1-hESC	embryonic stem cell:	n/a	chr7:50344179-50344186 chr7:50344205-50344217 chr7:50344179-50344186 chr7:50344205-50344214 chr7:50344179-50344186
35	POLR2A	chr7:50343733-50345349	PBDE	blood:	n/a	n/a
36	RCOR1	chr7:50343327-50344903	K562	blood:	n/a	n/a
37	CCNT2	chr7:50343268-50344769	K562	blood:	n/a	chr7:50343434-50343443 chr7:50344205-50344214
38	MAX	chr7:50343210-50344833	K562	blood:	n/a	n/a
39	BCLAF1	chr7:50343848-50344891	GM12878	blood:	n/a	chr7:50344405-50344418 chr7:50343972-50343985
40	HEY1	chr7:50343591-50344445	K562	blood:	n/a	chr7:50343970-50343985
41	TAF1	chr7:50343774-50344427	K562	blood:	n/a	n/a
42	CEBPB	chr7:50344112-50344418	K562	blood:	n/a	chr7:50344264-50344275
43	EBF1	chr7:50343855-50344795	GM12878	blood:	n/a	n/a
44	RUNX3	chr7:50344102-50345482	GM12878	blood:	n/a	chr7:50345045-50345054 chr7:50345152-50345167
45	PML	chr7:50344113-50345475	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:50343403-50344502	K562	blood:	n/a	n/a
47	YY1	chr7:50343667-50344465	GM12878	blood:	n/a	chr7:50344409-50344418 chr7:50344205-50344214
48	MXI1	chr7:50343756-50345335	GM12878	blood:	n/a	n/a
49	GABPA	chr7:50343994-50344413	H1-hESC	embryonic stem cell:	n/a	chr7:50344205-50344214
50	POLR2A	chr7:50343357-50344764	K562	blood:	n/a	n/a

Variant related genes	Relation type
IKZF1	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1024102	chr7:50195864-50418159	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3387620	chr7:50342756-50344804	Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3322655	chr7:50342831-50345779	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv11239	chr7:50343207-50344407	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1791747	chr7:50343238-50344544	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv1792582	chr7:50343238-50344544	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv1837115	chr7:50343238-50344544	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50342200-50344600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:50342400-50344400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:50342600-50344600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:50342800-50344600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr7:50342800-50344600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:50342800-50344600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:50342800-50345000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr7:50342800-50345400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr7:50343000-50344400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:50343000-50344800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr7:50343000-50344800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:50343000-50344800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:50343000-50344800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
14	chr7:50343000-50345400	Active TSS	Brain Anterior Caudate	brain
15	chr7:50343000-50345400	Bivalent/Poised TSS	Colonic Mucosa	Colon
16	chr7:50343000-50345400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
17	chr7:50343000-50346600	Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr7:50343200-50344400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:50343200-50344400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:50343200-50344400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:50343200-50344600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:50343200-50344600	Active TSS	Esophagus	oesophagus
23	chr7:50343200-50344800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr7:50343200-50344800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:50343200-50344800	Bivalent/Poised TSS	Psoas Muscle	Psoas
26	chr7:50343200-50345200	Active TSS	Duodenum Mucosa	Duodenum
27	chr7:50343200-50345200	Active TSS	Right Atrium	heart
28	chr7:50343200-50345400	Bivalent/Poised TSS	Small Intestine	intestine
29	chr7:50343200-50346400	Active TSS	Primary T cells from cord blood	blood
30	chr7:50343200-50346400	Active TSS	Rectal Smooth Muscle	rectum
31	chr7:50343200-50347200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:50343200-50347400	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr7:50343200-50347600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:50343400-50344400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
35	chr7:50343400-50344400	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
36	chr7:50343400-50344600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:50343400-50344600	Active TSS	H9 Cell Line	embryonic stem cell
38	chr7:50343400-50344600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:50343400-50344600	Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr7:50343400-50344600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:50343400-50344600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:50343400-50344600	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
43	chr7:50343400-50345800	Active TSS	Primary B cells from cord blood	blood
44	chr7:50343400-50346200	Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr7:50343400-50346400	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr7:50343400-50346400	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr7:50343400-50346600	Active TSS	Dnd41	blood
48	chr7:50343400-50347000	Active TSS	Primary T cells fromperipheralblood	blood
49	chr7:50343400-50347000	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr7:50343400-50347000	Active TSS	GM12878-XiMat	blood

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