Variant report

Variant	rs552793252
Chromosome Location	chr7:50343514-50343515
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	UBTF	chr7:50343511-50344911	K562	blood:	n/a	n/a
4	MYC	chr7:50343335-50345459	K562	blood:	n/a	n/a
5	POLR2A	chr7:50343226-50345248	GM18951	blood:	n/a	n/a
6	EGR1	chr7:50343429-50343741	K562	blood:	n/a	n/a
7	POLR2A	chr7:50343402-50345359	GM18505	blood:	n/a	n/a
8	E2F6	chr7:50342456-50343515	H1-hESC	embryonic stem cell:	n/a	chr7:50343421-50343430
9	POLR2A	chr7:50343479-50344532	GM12878	blood:	n/a	n/a
10	EGR1	chr7:50343456-50343736	GM12878	blood:	n/a	n/a
11	SPI1	chr7:50343501-50343641	K562	blood:	n/a	n/a
12	HMGN3	chr7:50342879-50344476	K562	blood:	n/a	n/a
13	SPI1	chr7:50343452-50343645	GM12891	blood:	n/a	n/a
14	E2F6	chr7:50343441-50343663	K562	blood:	n/a	n/a
15	POLR2A	chr7:50343022-50344882	GM19193	blood:	n/a	n/a
16	SPI1	chr7:50343447-50343645	GM12878	blood:	n/a	n/a
17	BHLHE40	chr7:50343216-50344727	GM12878	blood:	n/a	chr7:50344200-50344216 chr7:50343966-50343982
18	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
19	ELF1	chr7:50343374-50343782	K562	blood:	n/a	chr7:50343418-50343427 chr7:50343591-50343604
20	MAX	chr7:50343279-50345435	NB4	blood:	n/a	n/a
21	BHLHE40	chr7:50343130-50343921	K562	blood:	n/a	n/a
22	MAX	chr7:50342433-50343540	H1-hESC	embryonic stem cell:	n/a	n/a
23	RCOR1	chr7:50343327-50344903	K562	blood:	n/a	n/a
24	SPI1	chr7:50343420-50343781	HL-60	blood:	n/a	chr7:50343434-50343447
25	CCNT2	chr7:50343268-50344769	K562	blood:	n/a	chr7:50343434-50343443 chr7:50344205-50344214
26	MAX	chr7:50343210-50344833	K562	blood:	n/a	n/a
27	POLR2A	chr7:50343403-50344502	K562	blood:	n/a	n/a
28	ZBTB7A	chr7:50343368-50343865	K562	blood:	n/a	n/a
29	POLR2A	chr7:50343357-50344764	K562	blood:	n/a	n/a
30	UBTF	chr7:50343242-50345311	K562	blood:	n/a	n/a
31	HCFC1	chr7:50343267-50344390	K562	blood:	n/a	n/a
32	SPI1	chr7:50343454-50343651	K562	blood:	n/a	n/a
33	POLR2A	chr7:50343317-50344901	GM15510	blood:	n/a	n/a
34	YY1	chr7:50343485-50343632	K562	blood:	n/a	n/a
35	POLR2A	chr7:50343259-50344524	K562	blood:	n/a	n/a
36	MAZ	chr7:50343483-50344888	GM12878	blood:	n/a	n/a
37	MAZ	chr7:50343348-50344793	K562	blood:	n/a	n/a
38	ELF1	chr7:50343324-50344520	K562	blood:	n/a	chr7:50343418-50343427 chr7:50343591-50343604
39	E2F6	chr7:50343295-50343950	K562	blood:	n/a	chr7:50343421-50343430
40	POLR2A	chr7:50343425-50344499	K562	blood:	n/a	n/a
41	SPI1	chr7:50343385-50343771	GM12891	blood:	n/a	chr7:50343434-50343447
42	POLR2A	chr7:50343347-50345401	GM18526	blood:	n/a	n/a
43	POLR2A	chr7:50343447-50344491	GM12878	blood:	n/a	n/a
44	MYC	chr7:50343252-50344894	NB4	blood:	n/a	n/a
45	MAX	chr7:50343331-50343628	K562	blood:	n/a	n/a
46	ELF1	chr7:50343081-50344571	GM12878	blood:	n/a	chr7:50343229-50343241 chr7:50343418-50343427 chr7:50343591-50343604
47	TEAD4	chr7:50343402-50343787	K562	blood:	n/a	n/a
48	YY1	chr7:50343390-50344559	K562	blood:	n/a	chr7:50343412-50343426 chr7:50344409-50344418 chr7:50344205-50344214
49	POLR2A	chr7:50343378-50352747	GM12878	blood:	n/a	n/a
50	POLR2A	chr7:50343425-50345466	HL-60	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:86 , 50 per page) page: 1 2

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	chr7:50343000-50343600	Enhancers	Pancreas	Pancrea
10	chr7:50343000-50343800	Bivalent/Poised TSS	Right Ventricle	heart
11	chr7:50343000-50344000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:50343000-50344200	Active TSS	Primary hematopoietic stem cells	blood
13	chr7:50343000-50344400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:50343000-50344800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr7:50343000-50344800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:50343000-50344800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:50343000-50344800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
18	chr7:50343000-50345400	Active TSS	Brain Anterior Caudate	brain
19	chr7:50343000-50345400	Bivalent/Poised TSS	Colonic Mucosa	Colon
20	chr7:50343000-50345400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
21	chr7:50343000-50346600	Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr7:50343200-50343600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
23	chr7:50343200-50343600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:50343200-50343600	Enhancers	Gastric	stomach
25	chr7:50343200-50344200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:50343200-50344200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:50343200-50344200	Bivalent/Poised TSS	HUVEC	blood vessel
28	chr7:50343200-50344400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:50343200-50344400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:50343200-50344400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:50343200-50344600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:50343200-50344600	Active TSS	Esophagus	oesophagus
33	chr7:50343200-50344800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr7:50343200-50344800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:50343200-50344800	Bivalent/Poised TSS	Psoas Muscle	Psoas
36	chr7:50343200-50345200	Active TSS	Duodenum Mucosa	Duodenum
37	chr7:50343200-50345200	Active TSS	Right Atrium	heart
38	chr7:50343200-50345400	Bivalent/Poised TSS	Small Intestine	intestine
39	chr7:50343200-50346400	Active TSS	Primary T cells from cord blood	blood
40	chr7:50343200-50346400	Active TSS	Rectal Smooth Muscle	rectum
41	chr7:50343200-50347200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:50343200-50347400	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr7:50343200-50347600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:50343400-50343600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
45	chr7:50343400-50343600	Bivalent/Poised TSS	HMEC	breast
46	chr7:50343400-50343800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:50343400-50343800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:50343400-50343800	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
49	chr7:50343400-50343800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:50343400-50343800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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