Variant report

Variant	rs530715176
Chromosome Location	chr2:54682162-54682163
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	MYBL2	chr2:54681501-54683343	HepG2	liver:	n/a	n/a
2	CEBPD	chr2:54682136-54682461	HepG2	liver:	n/a	n/a
3	FOXA1	chr2:54681217-54682489	HepG2	liver:	n/a	chr2:54681973-54681988 chr2:54681975-54681987
4	FOXA2	chr2:54681664-54682203	A549	lung:	n/a	chr2:54681975-54681987
5	MYBL2	chr2:54681631-54683715	HepG2	liver:	n/a	n/a
6	HEY1	chr2:54681566-54683738	HepG2	liver:	n/a	chr2:54683583-54683598 chr2:54683492-54683507
7	YY1	chr2:54682078-54682582	HepG2	liver:	n/a	chr2:54682359-54682371
8	POLR2A	chr2:54681650-54683349	HepG2	liver:	n/a	n/a
9	FOXA1	chr2:54681590-54682475	HepG2	liver:	n/a	chr2:54681973-54681988 chr2:54681975-54681987
10	MBD4	chr2:54682085-54683332	HepG2	liver:	n/a	n/a
11	FOXA2	chr2:54681127-54682857	HepG2	liver:	n/a	chr2:54681975-54681987
12	FOXA1	chr2:54681604-54682450	HepG2	liver:	n/a	chr2:54681973-54681988 chr2:54681975-54681987
13	ARID3A	chr2:54681591-54682242	HepG2	liver:	n/a	n/a
14	NFIC	chr2:54681500-54682550	HepG2	liver:	n/a	n/a
15	MXI1	chr2:54681837-54685789	SK-N-SH	brain:	n/a	n/a
16	MBD4	chr2:54681524-54682655	HepG2	liver:	n/a	n/a
17	EP300	chr2:54681611-54682171	HepG2	liver:	n/a	chr2:54681670-54681680 chr2:54681974-54681984 chr2:54681743-54681753
18	MAZ	chr2:54682047-54685233	IMR90	lung:	n/a	chr2:54682934-54682942 chr2:54683800-54683809 chr2:54682429-54682440
19	FOXA2	chr2:54681575-54682404	HepG2	liver:	n/a	chr2:54681975-54681987
20	TAF1	chr2:54682113-54683746	H1-neurons	neurons:	n/a	n/a
21	HEY1	chr2:54681893-54683353	HepG2	liver:	n/a	n/a
22	YY1	chr2:54682129-54683355	H1-hESC	embryonic stem cell:	n/a	chr2:54683188-54683199 chr2:54682584-54682595 chr2:54682359-54682371
23	REST	chr2:54681921-54685572	H1-neurons	neurons:	n/a	chr2:54683922-54683942 chr2:54684871-54684881 chr2:54683744-54683757
24	POLR2A	chr2:54682123-54685349	H1-neurons	neurons:	n/a	n/a
25	MAX	chr2:54682088-54685404	A549	lung:	n/a	chr2:54682934-54682942 chr2:54683800-54683809 chr2:54682429-54682440
26	MAX	chr2:54682114-54685282	HepG2	liver:	n/a	chr2:54682934-54682942 chr2:54683800-54683809 chr2:54682429-54682440
27	TEAD4	chr2:54681509-54682622	HepG2	liver:	n/a	n/a
28	ELF1	chr2:54682112-54682546	HepG2	liver:	n/a	n/a
29	FOXA1	chr2:54681521-54682299	HepG2	liver:	n/a	chr2:54681973-54681988 chr2:54681975-54681987

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54663282..54665058-chr2:54681463..54683178,2	MCF-7	breast:

Variant related genes	Relation type
SPTBN1	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	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv3403234	chr2:54681448-54686246	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54677600-54682200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:54678600-54682200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:54681200-54682200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:54681200-54682200	Enhancers	Liver	Liver
5	chr2:54681400-54682200	Enhancers	Brain Hippocampus Middle	brain
6	chr2:54681600-54682200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:54681600-54682200	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:54681600-54682200	Enhancers	Brain Cingulate Gyrus	brain
9	chr2:54681600-54682200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:54681600-54682200	Enhancers	Fetal Heart	heart
11	chr2:54681600-54682800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr2:54681800-54682200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
13	chr2:54681800-54682200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:54681800-54682200	Enhancers	Brain Angular Gyrus	brain
15	chr2:54681800-54682200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:54681800-54682200	Enhancers	Fetal Brain Male	brain
17	chr2:54681800-54682200	Bivalent Enhancer	Fetal Intestine Small	intestine
18	chr2:54681800-54682200	Enhancers	Fetal Kidney	kidney
19	chr2:54681800-54682200	Active TSS	HepG2	liver
20	chr2:54681800-54682200	Enhancers	HUVEC	blood vessel
21	chr2:54681800-54682400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:54681800-54682600	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr2:54681800-54682600	Flanking Active TSS	HSMMtube	muscle
24	chr2:54681800-54683200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:54682000-54682200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:54682000-54682200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:54682000-54682200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
28	chr2:54682000-54682200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr2:54682000-54682200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:54682000-54682200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr2:54682000-54682200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:54682000-54682200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:54682000-54682200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:54682000-54682200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:54682000-54682200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:54682000-54682200	Enhancers	Colon Smooth Muscle	Colon
37	chr2:54682000-54682200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr2:54682000-54682200	Active TSS	Fetal Brain Female	brain
39	chr2:54682000-54682200	Enhancers	Fetal Lung	lung
40	chr2:54682000-54682200	Enhancers	Fetal Muscle Trunk	muscle
41	chr2:54682000-54682200	Enhancers	Fetal Muscle Leg	muscle
42	chr2:54682000-54682200	Enhancers	Fetal Stomach	stomach
43	chr2:54682000-54682200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr2:54682000-54682200	Active TSS	Stomach Smooth Muscle	stomach
45	chr2:54682000-54682200	Enhancers	A549	lung
46	chr2:54682000-54682200	Enhancers	Osteobl	bone
47	chr2:54682000-54682400	Active TSS	H1 Cell Line	embryonic stem cell
48	chr2:54682000-54682400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:54682000-54682400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr2:54682000-54682400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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