Variant report

Variant	rs540625083
Chromosome Location	chr2:233793367-233793368
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	ZBTB7A	chr2:233792918-233793631	ECC-1	luminal epithelium:	n/a	chr2:233793150-233793157
2	ZBTB7A	chr2:233792918-233793532	ECC-1	luminal epithelium:	n/a	chr2:233793150-233793157
3	MAX	chr2:233793359-233794290	H1-hESC	embryonic stem cell:	n/a	chr2:233794117-233794126 chr2:233794116-233794125 chr2:233794114-233794129 chr2:233794116-233794126 chr2:233794112-233794127 chr2:233794115-233794125
4	SIN3A	chr2:233793029-233793693	H1-hESC	embryonic stem cell:	n/a	chr2:233793095-233793104

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233792964..233795634-chr2:233797623..233799367,2	K562	blood:

Variant related genes	Relation type
NGEF	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3377192	chr2:233758324-233835472	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1014548	chr2:233777859-233816018	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv518226	chr2:233790447-233793517	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3376153	chr2:233791333-233794081	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	esv3411164	chr2:233791958-233793981	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233791200-233793400	Bivalent/Poised TSS	NHLF	lung
2	chr2:233791200-233793800	Bivalent Enhancer	Spleen	Spleen
3	chr2:233791400-233793600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:233791400-233793600	Bivalent Enhancer	Lung	lung
5	chr2:233791400-233794200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr2:233791600-233793600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr2:233791600-233798200	Weak transcription	HepG2	liver
8	chr2:233791800-233793400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:233791800-233793400	Bivalent/Poised TSS	Psoas Muscle	Psoas
10	chr2:233791800-233793600	Enhancers	Primary B cells from cord blood	blood
11	chr2:233791800-233793600	Enhancers	Fetal Heart	heart
12	chr2:233791800-233793800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:233791800-233794000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr2:233791800-233794000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr2:233791800-233794000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:233792000-233793400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:233792000-233793400	Active TSS	Brain Substantia Nigra	brain
18	chr2:233792000-233793600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr2:233792000-233793600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:233792000-233793600	Active TSS	Brain Anterior Caudate	brain
21	chr2:233792000-233793800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr2:233792000-233794000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr2:233792200-233793400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr2:233792200-233793400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr2:233792200-233793400	Bivalent/Poised TSS	Thymus	Thymus
26	chr2:233792200-233793600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:233792200-233793600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:233792200-233793600	Bivalent/Poised TSS	NHEK	skin
29	chr2:233792400-233793400	Active TSS	Primary hematopoietic stem cells	blood
30	chr2:233792400-233793400	Active TSS	Right Atrium	heart
31	chr2:233792400-233794400	Enhancers	Pancreas	Pancrea
32	chr2:233792400-233796000	Weak transcription	HSMMtube	muscle
33	chr2:233792400-233798000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:233792600-233793400	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
35	chr2:233792600-233793400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr2:233792600-233793400	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:233792800-233793400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:233792800-233793400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:233792800-233793600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:233792800-233793600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
41	chr2:233793000-233793400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:233793000-233793400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
43	chr2:233793000-233793400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr2:233793000-233793400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
45	chr2:233793000-233793400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:233793000-233793400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:233793000-233793400	Flanking Active TSS	Gastric	stomach
48	chr2:233793000-233793400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
49	chr2:233793000-233793400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
50	chr2:233793000-233793600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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