Variant report

Variant	rs182281805
Chromosome Location	chr2:46925392-46925393
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	MAZ	chr2:46925281-46926947	K562	blood:	n/a	chr2:46925915-46925924 chr2:46925914-46925925 chr2:46926001-46926010 chr2:46925914-46925923 chr2:46925913-46925926 chr2:46925913-46925926 chr2:46925571-46925581 chr2:46925914-46925925 chr2:46926003-46926012 chr2:46925915-46925924 chr2:46925915-46925924 chr2:46926002-46926013
2	FOSL2	chr2:46924693-46926291	HepG2	liver:	n/a	chr2:46925640-46925647 chr2:46925638-46925647
3	SIX5	chr2:46925262-46926233	A549	lung:	n/a	n/a
4	TEAD4	chr2:46924885-46926138	HepG2	liver:	n/a	n/a
5	JUND	chr2:46925385-46926988	GM12878	blood:	n/a	chr2:46925637-46925648 chr2:46925640-46925647 chr2:46925638-46925647 chr2:46926567-46926576
6	PBX3	chr2:46925306-46926690	SK-N-SH	brain:	n/a	n/a
7	YY1	chr2:46925349-46926348	ECC-1	luminal epithelium:	n/a	chr2:46925661-46925670 chr2:46926086-46926096 chr2:46926085-46926093 chr2:46926074-46926096
8	POLR2A	chr2:46925377-46926318	H1-neurons	neurons:	n/a	n/a
9	MAZ	chr2:46924871-46926829	HepG2	liver:	n/a	chr2:46925915-46925924 chr2:46925914-46925925 chr2:46926001-46926010 chr2:46925914-46925923 chr2:46925913-46925926 chr2:46925913-46925926 chr2:46925571-46925581 chr2:46925914-46925925 chr2:46926003-46926012 chr2:46925915-46925924 chr2:46925915-46925924 chr2:46926002-46926013
10	POLR2A	chr2:46925388-46926186	HepG2	liver:	n/a	n/a
11	POLR2A	chr2:46925358-46926841	Hela-S3	cervix:	n/a	n/a
12	REST	chr2:46925359-46926253	HL-60	blood:	n/a	n/a
13	HEY1	chr2:46925386-46926266	K562	blood:	n/a	n/a
14	MTA3	chr2:46925288-46926123	GM12878	blood:	n/a	n/a
15	ELF1	chr2:46925341-46926347	MCF-7	breast:	n/a	n/a
16	EP300	chr2:46925388-46926323	A549	lung:	n/a	chr2:46926092-46926108 chr2:46925638-46925647
17	TEAD4	chr2:46925328-46926422	SK-N-SH	brain:	n/a	n/a
18	PML	chr2:46925386-46926228	GM12878	blood:	n/a	chr2:46925640-46925649
19	FOSL1	chr2:46925386-46925845	K562	blood:	n/a	chr2:46925640-46925647 chr2:46925638-46925647
20	SIN3AK20	chr2:46925261-46926363	MCF-7	breast:	n/a	n/a
21	FOSL2	chr2:46925242-46926310	SK-N-SH	brain:	n/a	chr2:46925640-46925647 chr2:46925638-46925647
22	POLR2A	chr2:46925376-46926800	K562	blood:	n/a	n/a
23	SMARCB1	chr2:46925067-46927153	Hela-S3	cervix:	n/a	n/a
24	USF2	chr2:46925261-46926210	Hela-S3	cervix:	n/a	chr2:46926002-46926013
25	TCF12	chr2:46925027-46926468	A549	lung:	n/a	n/a
26	POLR2A	chr2:46925388-46926250	PANC-1	pancreas:	n/a	n/a
27	MYC	chr2:46925180-46927073	A549	lung:	n/a	chr2:46925915-46925924 chr2:46925914-46925925 chr2:46926001-46926010 chr2:46925914-46925923 chr2:46925913-46925926 chr2:46925913-46925926 chr2:46925571-46925581 chr2:46925914-46925925 chr2:46926003-46926012 chr2:46925915-46925924 chr2:46925915-46925924 chr2:46926002-46926013
28	MXI1	chr2:46925267-46927660	IMR90	lung:	n/a	chr2:46926004-46926013 chr2:46926023-46926032
29	POLR2A	chr2:46925292-46926598	U87	brain:	n/a	n/a
30	POLR2A	chr2:46925386-46926240	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr2:46925320-46926903	GM18505	blood:	n/a	n/a
32	MXI1	chr2:46924630-46927097	HepG2	liver:	n/a	chr2:46926004-46926013 chr2:46926023-46926032
33	CBX3	chr2:46925392-46926259	K562	blood:	n/a	n/a
34	YY1	chr2:46925312-46926471	SK-N-SH	brain:	n/a	chr2:46925661-46925670 chr2:46926086-46926096 chr2:46926085-46926093 chr2:46926074-46926096
35	MBD4	chr2:46924792-46926030	HepG2	liver:	n/a	n/a
36	POLR2A	chr2:46925068-46926995	K562	blood:	n/a	n/a
37	ARID3A	chr2:46924704-46926145	HepG2	liver:	n/a	n/a
38	MXI1	chr2:46924884-46930732	SK-N-SH	brain:	n/a	chr2:46926004-46926013 chr2:46926023-46926032
39	E2F6	chr2:46925184-46926899	K562	blood:	n/a	chr2:46926147-46926162 chr2:46925661-46925670
40	YY1	chr2:46925259-46926706	ECC-1	luminal epithelium:	n/a	chr2:46925661-46925670 chr2:46926566-46926580 chr2:46926086-46926096 chr2:46926085-46926093 chr2:46926675-46926689 chr2:46926074-46926096
41	NR2F2	chr2:46925232-46926278	K562	blood:	n/a	n/a
42	POLR2A	chr2:46924989-46926599	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr2:46925064-46927368	ProgFib	skin:	n/a	n/a
44	HNF4G	chr2:46924603-46925412	HepG2	liver:	n/a	chr2:46925107-46925122
45	HNF4G	chr2:46924695-46925464	HepG2	liver:	n/a	chr2:46925107-46925122
46	MAZ	chr2:46925325-46927439	IMR90	lung:	n/a	chr2:46925915-46925924 chr2:46925914-46925925 chr2:46926001-46926010 chr2:46925914-46925923 chr2:46925913-46925926 chr2:46925913-46925926 chr2:46925571-46925581 chr2:46925914-46925925 chr2:46926003-46926012 chr2:46925915-46925924 chr2:46925915-46925924 chr2:46926002-46926013
47	MAZ	chr2:46925272-46926893	GM12878	blood:	n/a	chr2:46925915-46925924 chr2:46925914-46925925 chr2:46926001-46926010 chr2:46925914-46925923 chr2:46925913-46925926 chr2:46925913-46925926 chr2:46925571-46925581 chr2:46925914-46925925 chr2:46926003-46926012 chr2:46925915-46925924 chr2:46925915-46925924 chr2:46926002-46926013
48	GATA3	chr2:46924626-46926424	A549	lung:	n/a	n/a
49	POLR2A	chr2:46925318-46927247	Hela-S3	cervix:	n/a	n/a
50	MBD4	chr2:46924861-46926123	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:46925381-46925431	AG10803	skin:	n/a
2	chr2:46925381-46925431	HEK293	kidney:	embryo
3	chr2:46925381-46925431	AG09319	gingival:	n/a
4	chr2:46925381-46925431	BJ	skin:	n/a
5	chr2:46925381-46925431	GM06990	blood:	n/a
6	chr2:46925381-46925431	Hela-S3	cervix:	n/a
7	chr2:46925381-46925431	NHDF-neo	bronchial:	n/a
8	chr2:46925381-46925431	AG09309	skin:	n/a
9	chr2:46925381-46925431	HL-60	blood:	n/a
10	chr2:46925381-46925431	HMEC	breast:	n/a
11	chr2:46925381-46925431	SK-N-SH	brain:	n/a
12	chr2:46925381-46925431	GM12878	blood:	n/a
13	chr2:46925381-46925431	PANC-1	pancreas:	n/a
14	chr2:46925381-46925431	GM12891	blood:	n/a
15	chr2:46925381-46925431	SK-N-SH_RA	brain:	n/a
16	chr2:46925381-46925431	HPAEpiC	pulmonary alveolar:	n/a
17	chr2:46925381-46925431	RPTEC	kidney:	n/a
18	chr2:46925381-46925431	T-47D	breast:	n/a
19	chr2:46925381-46925431	A549	lung:	n/a
20	chr2:46925381-46925431	PrEC	prostate:	n/a
21	chr2:46925381-46925431	ProgFib	skin:	n/a
22	chr2:46925381-46925431	SAEC	small airway:	n/a
23	chr2:46925381-46925431	U87	brain:	n/a
24	chr2:46925381-46925431	BE2_C	brain:	n/a
25	chr2:46925381-46925431	AG04449	skin:	fetal
26	chr2:46925381-46925431	HNPCEpiC	eye:	n/a
27	chr2:46925381-46925431	NB4	blood:	n/a
28	chr2:46925381-46925431	NT2-D1	testis:	n/a
29	chr2:46925381-46925431	HCT-116	colon:	n/a
30	chr2:46925381-46925431	H1-hESC	embryonic stem cell:	embryo
31	chr2:46925381-46925431	HUVEC	blood vessel:	n/a
32	chr2:46925381-46925431	HEEpiC	esophagus:	n/a
33	chr2:46925381-46925431	Caco-2	colon:	n/a
34	chr2:46925381-46925431	LNCaP	prostate:	n/a
35	chr2:46925381-46925431	PFSK-1	brain:	n/a
36	chr2:46925381-46925431	IMR90	lung:	fetal
37	chr2:46925381-46925431	GM19239	blood:	n/a
38	chr2:46925381-46925431	ECC-1	luminal epithelium:	n/a
39	chr2:46925381-46925431	HIPEpiC	eye:	n/a
40	chr2:46925381-46925431	GM12892	blood:	n/a
41	chr2:46925381-46925431	CMK	blood:	n/a
42	chr2:46925381-46925431	MCF-7	breast:	n/a
43	chr2:46925381-46925431	K562	blood:	n/a
44	chr2:46925381-46925431	HCPEpiC	choroid plexus:	n/a
45	chr2:46925381-46925431	Hepatocyte	liver:	n/a
46	chr2:46925381-46925431	HRE	kidney:	n/a
47	chr2:46925381-46925431	HCM	heart:	n/a
48	chr2:46925381-46925431	AG04450	lung:	fetal
49	chr2:46925381-46925431	HCF	heart:	n/a
50	chr2:46925381-46925431	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:46897133..46898995-chr2:46922668..46925477,2	K562	blood:
2	chr2:46923183..46926073-chr2:46944483..46946206,2	K562	blood:
3	chr2:46842180..46843861-chr2:46924432..46926384,2	K562	blood:
4	chr2:46923714..46925684-chr2:46963885..46966277,2	MCF-7	breast:
5	chr2:46919753..46923455-chr2:46923473..46925760,5	K562	blood:
6	chr2:46916264..46918533-chr2:46923065..46926019,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIGF-4	chr2:46925253-46925831	NONHSAT070524

Variant related genes	Relation type
SOCS5	TF binding region
SOCS5	CpG island
ENSG00000119878	Chromatin interaction

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	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
6	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv3365634	chr2:46910377-46929000	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3460455	chr2:46910422-46928955	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv3460454	chr2:46910435-46928955	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv3460456	chr2:46910436-46928951	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv3343605	chr2:46925273-46927821	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46922600-46925400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:46924600-46929200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:46924800-46925400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:46924800-46925400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:46924800-46925400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:46924800-46925400	Enhancers	Placenta	Placenta
7	chr2:46924800-46925600	Enhancers	Gastric	stomach
8	chr2:46924800-46925600	Enhancers	Lung	lung
9	chr2:46924800-46925600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr2:46924800-46925800	Flanking Active TSS	Dnd41	blood
11	chr2:46924800-46928200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr2:46925000-46925400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:46925000-46925400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr2:46925000-46925400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr2:46925000-46925400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:46925000-46925400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:46925000-46925400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr2:46925000-46925400	Enhancers	Fetal Kidney	kidney
19	chr2:46925000-46925400	Flanking Active TSS	Rectal Smooth Muscle	rectum
20	chr2:46925000-46925400	Enhancers	NHLF	lung
21	chr2:46925000-46925600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:46925000-46925600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr2:46925000-46925600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr2:46925000-46925600	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr2:46925000-46925600	Flanking Active TSS	Colonic Mucosa	Colon
26	chr2:46925000-46925600	Enhancers	Fetal Brain Male	brain
27	chr2:46925000-46925600	Enhancers	Stomach Mucosa	stomach
28	chr2:46925000-46925600	Flanking Active TSS	A549	lung
29	chr2:46925000-46925600	Flanking Active TSS	Hela-S3	cervix
30	chr2:46925000-46925600	Enhancers	NHDF-Ad	bronchial
31	chr2:46925000-46925800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:46925000-46925800	Weak transcription	Small Intestine	intestine
33	chr2:46925000-46926000	Flanking Active TSS	K562	blood
34	chr2:46925000-46927200	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr2:46925000-46927200	Active TSS	Duodenum Mucosa	Duodenum
36	chr2:46925000-46928400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:46925000-46930000	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr2:46925200-46925400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr2:46925200-46925400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:46925200-46925400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr2:46925200-46925400	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr2:46925200-46925400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr2:46925200-46925400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:46925200-46925400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:46925200-46925400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:46925200-46925400	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr2:46925200-46925400	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr2:46925200-46925400	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr2:46925200-46925400	Enhancers	Fetal Lung	lung
50	chr2:46925200-46925400	Enhancers	Fetal Muscle Leg	muscle

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