Variant report

Variant	rs13308184
Chromosome Location	chr7:50343242-50343243
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	POLR2A	chr7:50343226-50345248	GM18951	blood:	n/a	n/a
2	E2F6	chr7:50342456-50343515	H1-hESC	embryonic stem cell:	n/a	chr7:50343421-50343430
3	BACH1	chr7:50342943-50343353	H1-hESC	embryonic stem cell:	n/a	n/a
4	HMGN3	chr7:50342879-50344476	K562	blood:	n/a	n/a
5	POLR2A	chr7:50343022-50344882	GM19193	blood:	n/a	n/a
6	BHLHE40	chr7:50343216-50344727	GM12878	blood:	n/a	chr7:50344200-50344216 chr7:50343966-50343982
7	E2F6	chr7:50342399-50343473	H1-hESC	embryonic stem cell:	n/a	chr7:50343421-50343430
8	MAX	chr7:50342422-50343393	H1-hESC	embryonic stem cell:	n/a	n/a
9	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
10	MAX	chr7:50342640-50343285	H1-hESC	embryonic stem cell:	n/a	n/a
11	BHLHE40	chr7:50343130-50343921	K562	blood:	n/a	n/a
12	MAX	chr7:50342433-50343540	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr7:50343210-50344833	K562	blood:	n/a	n/a
14	CTCF	chr7:50343240-50343390	GM12871	blood:	n/a	n/a
15	UBTF	chr7:50343242-50345311	K562	blood:	n/a	n/a
16	ELF1	chr7:50343081-50344571	GM12878	blood:	n/a	chr7:50343229-50343241 chr7:50343418-50343427 chr7:50343591-50343604

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:95 , 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	chr7:50342400-50343400	Bivalent Enhancer	Placenta	Placenta
3	chr7:50342400-50344400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr7:50342600-50343400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr7:50342600-50344600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:50342800-50343400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr7:50342800-50343400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:50342800-50343400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr7:50342800-50343400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr7:50342800-50343400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:50342800-50343400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:50342800-50343400	Bivalent Enhancer	Fetal Intestine Large	intestine
13	chr7:50342800-50343400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr7:50342800-50343400	Bivalent Enhancer	Lung	lung
15	chr7:50342800-50343400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr7:50342800-50344600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr7:50342800-50344600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:50342800-50344600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr7:50342800-50345000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:50342800-50345400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr7:50343000-50343400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:50343000-50343400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:50343000-50343400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr7:50343000-50343400	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr7:50343000-50343400	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr7:50343000-50343400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr7:50343000-50343400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr7:50343000-50343400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:50343000-50343400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:50343000-50343400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr7:50343000-50343400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr7:50343000-50343400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:50343000-50343400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:50343000-50343400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:50343000-50343400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
36	chr7:50343000-50343400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
37	chr7:50343000-50343400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr7:50343000-50343400	Bivalent Enhancer	Fetal Brain Male	brain
39	chr7:50343000-50343400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
40	chr7:50343000-50343400	Bivalent Enhancer	Fetal Stomach	stomach
41	chr7:50343000-50343400	Flanking Active TSS	Fetal Thymus	thymus
42	chr7:50343000-50343400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
43	chr7:50343000-50343400	Flanking Active TSS	Thymus	Thymus
44	chr7:50343000-50343400	Flanking Active TSS	Dnd41	blood
45	chr7:50343000-50343600	Enhancers	Pancreas	Pancrea
46	chr7:50343000-50343800	Bivalent/Poised TSS	Right Ventricle	heart
47	chr7:50343000-50344000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:50343000-50344200	Active TSS	Primary hematopoietic stem cells	blood
49	chr7:50343000-50344400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:50343000-50344800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell

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