Variant report

Variant	rs147349815
Chromosome Location	chr2:36582113-36582114
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	REST	chr2:36581908-36583257	H1-neurons	neurons:	n/a	chr2:36582210-36582220 chr2:36582623-36582643 chr2:36582119-36582127 chr2:36583054-36583067 chr2:36583095-36583108 chr2:36582513-36582526
2	MAX	chr2:36581818-36583228	A549	lung:	n/a	chr2:36583171-36583181 chr2:36582816-36582825
3	STAT3	chr2:36581888-36582346	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr2:36581529-36586771	HUVEC	blood vessel:	n/a	n/a
5	ZNF263	chr2:36581792-36585657	HEK293-T-REx	kidney:	n/a	chr2:36582682-36582691 chr2:36583058-36583067 chr2:36584305-36584314 chr2:36583408-36583417 chr2:36582841-36582850 chr2:36582722-36582731 chr2:36583047-36583068
6	POLR2A	chr2:36581491-36585794	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:36581666-36586427	IMR90	lung:	n/a	n/a
8	SIN3AK20	chr2:36581837-36582338	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr2:36581831-36582345	PANC-1	pancreas:	n/a	n/a
10	CREB1	chr2:36581986-36585508	HepG2	liver:	n/a	n/a
11	SIN3AK20	chr2:36581880-36583285	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr2:36582062-36583824	MCF10A-Er-Src	breast:	n/a	n/a
13	SP1	chr2:36581527-36583149	A549	lung:	n/a	chr2:36582999-36583008 chr2:36582821-36582831 chr2:36582782-36582791 chr2:36582817-36582831 chr2:36582836-36582850 chr2:36582821-36582830 chr2:36582998-36583007 chr2:36582994-36583008 chr2:36582720-36582734 chr2:36582794-36582815
14	TCF12	chr2:36581573-36583314	A549	lung:	n/a	n/a
15	SIN3A	chr2:36581674-36585662	H1-hESC	embryonic stem cell:	n/a	chr2:36583069-36583082 chr2:36582118-36582126
16	MAZ	chr2:36581703-36585862	IMR90	lung:	n/a	chr2:36583787-36583797 chr2:36583171-36583181 chr2:36582816-36582825
17	CHD1	chr2:36581051-36590233	IMR90	lung:	n/a	chr2:36584898-36584908
18	POLR2A	chr2:36581769-36582330	SK-N-SH	brain:	n/a	n/a
19	MXI1	chr2:36581371-36586962	IMR90	lung:	n/a	chr2:36583794-36583803
20	POLR2A	chr2:36581471-36582333	PANC-1	pancreas:	n/a	n/a
21	MAX	chr2:36581645-36586064	A549	lung:	n/a	chr2:36583787-36583797 chr2:36583171-36583181 chr2:36582816-36582825
22	POLR2A	chr2:36581876-36585852	ProgFib	skin:	n/a	n/a
23	RFX5	chr2:36582104-36582308	HepG2	liver:	n/a	n/a
24	CHD2	chr2:36582085-36582946	H1-hESC	embryonic stem cell:	n/a	n/a
25	TBP	chr2:36582054-36583277	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr2:36581428-36586725	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr2:36582093-36585368	Hela-S3	cervix:	n/a	n/a
28	EP300	chr2:36581809-36583797	SK-N-SH	brain:	n/a	chr2:36583770-36583786 chr2:36582660-36582676 chr2:36583082-36583098 chr2:36583418-36583427 chr2:36583107-36583116 chr2:36583068-36583077 chr2:36583066-36583075 chr2:36583069-36583085 chr2:36583070-36583086
29	TAF1	chr2:36581719-36582199	SK-N-SH	brain:	n/a	n/a
30	SMC3	chr2:36581869-36583056	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr2:36582093-36582445	HepG2	liver:	n/a	chr2:36582300-36582313
32	MAZ	chr2:36582068-36585332	Hela-S3	cervix:	n/a	chr2:36583787-36583797 chr2:36583171-36583181 chr2:36582816-36582825
33	GATA3	chr2:36581389-36586752	A549	lung:	n/a	chr2:36584490-36584497 chr2:36585752-36585763
34	POLR2A	chr2:36582019-36585717	Hela-S3	cervix:	n/a	n/a
35	SIN3AK20	chr2:36581731-36582422	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36579541..36582234-chr2:36891147..36893577,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC007401.2.1-1	chr2:36581908-36582124	XLOC_002048
2	lnc-AC007401.2.1-1	chr2:36581892-36582257	ENSG00000260025.1
3	lnc-AC007401.2.1-1	chr2:36581478-36582124	NONHSAT070077
4	lnc-AC007401.2.1-1	chr2:36581895-36582124	NONHSAT070079
5	lnc-AC007401.2.1-1	chr2:36581892-36582124	NR_037631

Variant related genes	Relation type
CRIM1	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757792	chr2:36243452-36590658	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2759040	chr2:36243452-36590658	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3408557	chr2:36581673-36584221	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3447532	chr2:36581748-36584896	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3441143	chr2:36581973-36584821	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36579800-36582400	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:36580800-36582200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:36581000-36582200	Flanking Active TSS	HUVEC	blood vessel
4	chr2:36581200-36582200	Flanking Active TSS	HMEC	breast
5	chr2:36581200-36582200	Flanking Active TSS	Osteobl	bone
6	chr2:36581200-36586400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:36581400-36582200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:36581400-36582200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr2:36581400-36582200	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr2:36581400-36582200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:36581400-36582200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
12	chr2:36581400-36582200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr2:36581400-36585800	Active TSS	Fetal Brain Female	brain
14	chr2:36581400-36586400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:36581600-36582200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr2:36581600-36582200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr2:36581600-36582200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
18	chr2:36581600-36582200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:36581600-36582200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:36581600-36582200	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr2:36581600-36582200	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr2:36581600-36582200	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr2:36581600-36582200	Enhancers	Spleen	Spleen
24	chr2:36581600-36582200	Flanking Active TSS	HSMMtube	muscle
25	chr2:36581600-36582400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr2:36581600-36582400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:36581600-36582400	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr2:36581600-36582400	Active TSS	Brain Germinal Matrix	brain
29	chr2:36581600-36582400	Flanking Active TSS	Hela-S3	cervix
30	chr2:36581600-36584400	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr2:36581600-36585000	Active TSS	Rectal Smooth Muscle	rectum
32	chr2:36581600-36585400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:36581800-36582200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:36581800-36582200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr2:36581800-36582200	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr2:36581800-36582200	Flanking Active TSS	Fetal Heart	heart
37	chr2:36581800-36582200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
38	chr2:36581800-36582200	Flanking Active TSS	Ovary	ovary
39	chr2:36581800-36582400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:36581800-36582400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
41	chr2:36581800-36582400	Active TSS	Fetal Brain Male	brain
42	chr2:36581800-36582400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr2:36581800-36582600	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr2:36581800-36583000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:36581800-36583000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:36581800-36583800	Active TSS	NHLF	lung
47	chr2:36581800-36585400	Active TSS	Fetal Intestine Large	intestine
48	chr2:36581800-36585400	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr2:36581800-36585600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:36581800-36585600	Active TSS	Fetal Stomach	stomach

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