Variant report

Variant	rs142010565
Chromosome Location	chr7:50344785-50344786
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	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	MYC	chr7:50343335-50345459	K562	blood:	n/a	n/a
7	POLR2A	chr7:50343548-50344786	K562	blood:	n/a	n/a
8	CHD1	chr7:50344114-50345518	GM12878	blood:	n/a	chr7:50344206-50344216 chr7:50344413-50344423
9	POLR2A	chr7:50343682-50345250	GM10847	blood:	n/a	n/a
10	POLR2A	chr7:50344538-50344792	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:50343226-50345248	GM18951	blood:	n/a	n/a
12	POLR2A	chr7:50343402-50345359	GM18505	blood:	n/a	n/a
13	ZNF143	chr7:50344714-50344801	K562	blood:	n/a	n/a
14	MYC	chr7:50343702-50345253	K562	blood:	n/a	n/a
15	YY1	chr7:50344468-50344900	GM12878	blood:	n/a	n/a
16	MTA3	chr7:50344043-50345400	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:50343022-50344882	GM19193	blood:	n/a	n/a
18	TAF1	chr7:50344538-50344879	GM12878	blood:	n/a	n/a
19	NFIC	chr7:50344753-50345342	GM12878	blood:	n/a	n/a
20	SIN3A	chr7:50343975-50344785	H1-hESC	embryonic stem cell:	n/a	chr7:50344199-50344210
21	ZNF143	chr7:50343735-50344819	GM12878	blood:	n/a	n/a
22	MAX	chr7:50343279-50345435	NB4	blood:	n/a	n/a
23	IRF1	chr7:50344237-50345095	K562	blood:	n/a	n/a
24	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
25	POLR2A	chr7:50343733-50345349	PBDE	blood:	n/a	n/a
26	RCOR1	chr7:50343327-50344903	K562	blood:	n/a	n/a
27	SMC3	chr7:50344662-50344854	K562	blood:	n/a	chr7:50344702-50344716
28	MAX	chr7:50343210-50344833	K562	blood:	n/a	n/a
29	CTCF	chr7:50344660-50344810	GM12874	blood:	n/a	chr7:50344703-50344711
30	BCLAF1	chr7:50343848-50344891	GM12878	blood:	n/a	chr7:50344405-50344418 chr7:50343972-50343985
31	YY1	chr7:50344580-50344801	K562	blood:	n/a	n/a
32	CTCF	chr7:50344592-50344903	K562	blood:	n/a	chr7:50344703-50344711
33	EBF1	chr7:50343855-50344795	GM12878	blood:	n/a	n/a
34	RUNX3	chr7:50344102-50345482	GM12878	blood:	n/a	chr7:50345045-50345054 chr7:50345152-50345167
35	PML	chr7:50344113-50345475	GM12878	blood:	n/a	n/a
36	MXI1	chr7:50343756-50345335	GM12878	blood:	n/a	n/a
37	NFIC	chr7:50344590-50345256	GM12878	blood:	n/a	n/a
38	UBTF	chr7:50343242-50345311	K562	blood:	n/a	n/a
39	BHLHE40	chr7:50344167-50344836	K562	blood:	n/a	chr7:50344200-50344216
40	REST	chr7:50343999-50344921	HL-60	blood:	n/a	n/a
41	BCLAF1	chr7:50344529-50344858	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:50343632-50344862	GM12892	blood:	n/a	n/a
43	POLR2A	chr7:50343317-50344901	GM15510	blood:	n/a	n/a
44	RUNX3	chr7:50344583-50345364	GM12878	blood:	n/a	chr7:50345045-50345054 chr7:50345152-50345167
45	POLR2A	chr7:50343739-50350920	GM12891	blood:	n/a	n/a
46	MAZ	chr7:50343483-50344888	GM12878	blood:	n/a	n/a
47	NFATC1	chr7:50344368-50345451	GM12878	blood:	n/a	n/a
48	MAZ	chr7:50343348-50344793	K562	blood:	n/a	n/a
49	CTCF	chr7:50344700-50344850	GM12872	blood:	n/a	chr7:50344703-50344711
50	POLR2A	chr7:50343680-50345328	Raji	blood:	n/a	n/a

Variant related genes	Relation type
IKZF1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50342800-50345000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:50342800-50345400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr7:50343000-50344800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr7:50343000-50344800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:50343000-50344800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:50343000-50344800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
7	chr7:50343000-50345400	Active TSS	Brain Anterior Caudate	brain
8	chr7:50343000-50345400	Bivalent/Poised TSS	Colonic Mucosa	Colon
9	chr7:50343000-50345400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
10	chr7:50343000-50346600	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr7:50343200-50344800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr7:50343200-50344800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:50343200-50344800	Bivalent/Poised TSS	Psoas Muscle	Psoas
14	chr7:50343200-50345200	Active TSS	Duodenum Mucosa	Duodenum
15	chr7:50343200-50345200	Active TSS	Right Atrium	heart
16	chr7:50343200-50345400	Bivalent/Poised TSS	Small Intestine	intestine
17	chr7:50343200-50346400	Active TSS	Primary T cells from cord blood	blood
18	chr7:50343200-50346400	Active TSS	Rectal Smooth Muscle	rectum
19	chr7:50343200-50347200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:50343200-50347400	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr7:50343200-50347600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:50343400-50345800	Active TSS	Primary B cells from cord blood	blood
23	chr7:50343400-50346200	Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr7:50343400-50346400	Active TSS	Primary monocytes fromperipheralblood	blood
25	chr7:50343400-50346400	Active TSS	Monocytes-CD14+_RO01746	blood
26	chr7:50343400-50346600	Active TSS	Dnd41	blood
27	chr7:50343400-50347000	Active TSS	Primary T cells fromperipheralblood	blood
28	chr7:50343400-50347000	Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr7:50343400-50347000	Active TSS	GM12878-XiMat	blood
30	chr7:50343400-50347200	Active TSS	Primary B cells from peripheral blood	blood
31	chr7:50343400-50347200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:50343400-50347400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:50343400-50347400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr7:50343400-50347400	Active TSS	Fetal Thymus	thymus
35	chr7:50343400-50347400	Active TSS	K562	blood
36	chr7:50343400-50347600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr7:50343400-50347800	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr7:50343400-50348200	Active TSS	Thymus	Thymus
39	chr7:50343600-50345200	Bivalent/Poised TSS	Left Ventricle	heart
40	chr7:50343800-50344800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
41	chr7:50343800-50345400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
42	chr7:50343800-50345600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
43	chr7:50343800-50346800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
44	chr7:50344000-50348400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:50344200-50344800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:50344200-50344800	Flanking Bivalent TSS/Enh	Liver	Liver
47	chr7:50344200-50344800	Bivalent Enhancer	Fetal Brain Male	brain
48	chr7:50344200-50345400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:50344200-50345600	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr7:50344400-50344800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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