Variant report

Variant	rs565441775
Chromosome Location	chr2:46926103-46926104
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	POLR2A	chr2:46925418-46926670	HUVEC	blood vessel:	n/a	n/a
2	E2F6	chr2:46925481-46926279	A549	lung:	n/a	chr2:46926147-46926162 chr2:46925661-46925670
3	CTCF	chr2:46926040-46926212	MCF-7	breast:	n/a	n/a
4	POLR2A	chr2:46925541-46926253	GM12892	blood:	n/a	n/a
5	POLR2A	chr2:46925489-46926237	A549	lung:	n/a	n/a
6	CTCF	chr2:46926000-46926150	HCPEpiC	choroid plexus:	n/a	n/a
7	BACH1	chr2:46925618-46926112	H1-hESC	embryonic stem cell:	n/a	n/a
8	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
9	CREB1	chr2:46925519-46926608	H1-hESC	embryonic stem cell:	n/a	n/a
10	FOSL2	chr2:46924693-46926291	HepG2	liver:	n/a	chr2:46925640-46925647 chr2:46925638-46925647
11	TCF3	chr2:46925964-46926150	GM12878	blood:	n/a	n/a
12	SIX5	chr2:46925262-46926233	A549	lung:	n/a	n/a
13	MAX	chr2:46925655-46926931	HepG2	liver:	n/a	chr2:46925915-46925924 chr2:46925914-46925925 chr2:46926001-46926010 chr2:46925914-46925923 chr2:46925913-46925926 chr2:46925913-46925926 chr2:46925914-46925925 chr2:46926003-46926012 chr2:46925915-46925924 chr2:46925915-46925924 chr2:46926002-46926013
14	POLR2A	chr2:46925418-46926823	MCF-7	breast:	n/a	n/a
15	MAFK	chr2:46925961-46926180	Hela-S3	cervix:	n/a	n/a
16	TEAD4	chr2:46924885-46926138	HepG2	liver:	n/a	n/a
17	JUND	chr2:46925385-46926988	GM12878	blood:	n/a	chr2:46925637-46925648 chr2:46925640-46925647 chr2:46925638-46925647 chr2:46926567-46926576
18	YY1	chr2:46925779-46926311	A549	lung:	n/a	chr2:46926086-46926096 chr2:46926085-46926093 chr2:46926074-46926096
19	ATF3	chr2:46925628-46926257	H1-hESC	embryonic stem cell:	n/a	chr2:46925661-46925670
20	ELK1	chr2:46925592-46926114	GM12878	blood:	n/a	n/a
21	CTCF	chr2:46926020-46926170	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr2:46925405-46926193	Hela-S3	cervix:	n/a	n/a
23	EGR1	chr2:46925513-46926374	HCT-116	colon:	n/a	chr2:46926143-46926152 chr2:46926142-46926155
24	CREB1	chr2:46925905-46926233	ECC-1	luminal epithelium:	n/a	n/a
25	PBX3	chr2:46925306-46926690	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr2:46925429-46926220	PANC-1	pancreas:	n/a	n/a
27	CTCF	chr2:46926076-46926171	Gliobla	brain:	n/a	n/a
28	REST	chr2:46925784-46926238	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr2:46925658-46926212	GM12878	blood:	n/a	n/a
30	RXRA	chr2:46925494-46926193	HepG2	liver:	n/a	n/a
31	SIN3AK20	chr2:46925556-46926152	HepG2	liver:	n/a	n/a
32	YY1	chr2:46925349-46926348	ECC-1	luminal epithelium:	n/a	chr2:46925661-46925670 chr2:46926086-46926096 chr2:46926085-46926093 chr2:46926074-46926096
33	CTCF	chr2:46926029-46926205	GM19240	blood:	n/a	n/a
34	E2F6	chr2:46925748-46926257	K562	blood:	n/a	chr2:46926147-46926162
35	POLR2A	chr2:46925377-46926318	H1-neurons	neurons:	n/a	n/a
36	NFYA	chr2:46925517-46926671	Hela-S3	cervix:	n/a	n/a
37	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
38	CTCF	chr2:46926060-46926210	HRE	kidney:	n/a	n/a
39	POLR2A	chr2:46925677-46926174	A549	lung:	n/a	n/a
40	PAX5	chr2:46925740-46926323	GM12878	blood:	n/a	chr2:46926245-46926263 chr2:46926244-46926261 chr2:46926244-46926263
41	POLR2A	chr2:46925388-46926186	HepG2	liver:	n/a	n/a
42	POLR2A	chr2:46925506-46926177	A549	lung:	n/a	n/a
43	TEAD4	chr2:46925440-46926272	K562	blood:	n/a	n/a
44	POLR2A	chr2:46925358-46926841	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr2:46925447-46926878	NB4	blood:	n/a	n/a
46	CTCF	chr2:46926080-46926230	HA-sp	spinal cord:	n/a	n/a
47	MAX	chr2:46925513-46926954	Hela-S3	cervix:	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	REST	chr2:46925359-46926253	HL-60	blood:	n/a	n/a
49	CTCF	chr2:46926080-46926230	AG04450	lung:	n/a	n/a
50	MAX	chr2:46925507-46926309	H1-hESC	embryonic stem cell:	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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:46926069-46926119	GM12891	blood:	n/a
2	chr2:46926069-46926119	MCF-7	breast:	n/a
3	chr2:46926069-46926119	IMR90	lung:	fetal
4	chr2:46926069-46926119	PFSK-1	brain:	n/a
5	chr2:46926069-46926119	AoSMC	blood vessel:	n/a
6	chr2:46926069-46926119	AG09309	skin:	n/a
7	chr2:46926069-46926119	HRPEpiC	eye:	n/a
8	chr2:46926069-46926119	HepG2	liver:	n/a
9	chr2:46926069-46926119	T-47D	breast:	n/a
10	chr2:46926069-46926119	HCT-116	colon:	n/a
11	chr2:46926069-46926119	SKMC	muscle:	n/a
12	chr2:46926069-46926119	NT2-D1	testis:	n/a
13	chr2:46926069-46926119	Hela-S3	cervix:	n/a
14	chr2:46926069-46926119	HCM	heart:	n/a
15	chr2:46926069-46926119	SK-N-SH	brain:	n/a
16	chr2:46926069-46926119	ovcar-3	ovarian:	n/a
17	chr2:46926069-46926119	HNPCEpiC	eye:	n/a
18	chr2:46926069-46926119	GM12878	blood:	n/a
19	chr2:46926069-46926119	HRCEpiC	kidney:	n/a
20	chr2:46926069-46926119	SK-N-MC	brain:	n/a
21	chr2:46926069-46926119	AG04449	skin:	fetal
22	chr2:46926069-46926119	NB4	blood:	n/a
23	chr2:46926069-46926119	NH-A	brain:	n/a
24	chr2:46926069-46926119	SAEC	small airway:	n/a
25	chr2:46926069-46926119	HEEpiC	esophagus:	n/a
26	chr2:46926069-46926119	ECC-1	luminal epithelium:	n/a
27	chr2:46926069-46926119	MCF10A-Er-Src	breast:	n/a
28	chr2:46926069-46926119	H1-hESC	embryonic stem cell:	embryo
29	chr2:46926069-46926119	HUVEC	blood vessel:	n/a
30	chr2:46926069-46926119	BE2_C	brain:	n/a
31	chr2:46926069-46926119	HPAEpiC	pulmonary alveolar:	n/a
32	chr2:46926069-46926119	AG09319	gingival:	n/a
33	chr2:46926069-46926119	HMEC	breast:	n/a
34	chr2:46926069-46926119	K562	blood:	n/a
35	chr2:46926069-46926119	GM19239	blood:	n/a
36	chr2:46926069-46926119	AG10803	skin:	n/a
37	chr2:46926069-46926119	RPTEC	kidney:	n/a
38	chr2:46926069-46926119	HRE	kidney:	n/a
39	chr2:46926069-46926119	SK-N-SH_RA	brain:	n/a
40	chr2:46926069-46926119	Caco-2	colon:	n/a
41	chr2:46926069-46926119	PANC-1	pancreas:	n/a
42	chr2:46926069-46926119	Hepatocyte	liver:	n/a
43	chr2:46926069-46926119	A549	lung:	n/a
44	chr2:46926069-46926119	HCPEpiC	choroid plexus:	n/a
45	chr2:46926069-46926119	NHDF-neo	bronchial:	n/a
46	chr2:46926069-46926119	ProgFib	skin:	n/a
47	chr2:46926069-46926119	U87	brain:	n/a
48	chr2:46926069-46926119	GM12892	blood:	n/a
49	chr2:46926069-46926119	BJ	skin:	n/a
50	chr2:46926069-46926119	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46925509..46928130-chr2:47135510..47137063,2	MCF-7	breast:
2	chr2:46842180..46843861-chr2:46924432..46926384,2	K562	blood:

Variant related genes	Relation type
SOCS5	TF binding region
SOCS5	CpG island
ENSG00000180398	Chromatin interaction
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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46924600-46929200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:46924800-46928200	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr2:46925000-46927200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr2:46925000-46927200	Active TSS	Duodenum Mucosa	Duodenum
5	chr2:46925000-46928400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:46925000-46930000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr2:46925200-46926400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:46925200-46927000	Active TSS	Brain Substantia Nigra	brain
9	chr2:46925200-46927200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:46925200-46927200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:46925200-46927200	Active TSS	Brain Anterior Caudate	brain
12	chr2:46925200-46927200	Active TSS	Brain Germinal Matrix	brain
13	chr2:46925200-46927200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr2:46925200-46927200	Active TSS	Fetal Brain Female	brain
15	chr2:46925200-46927200	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr2:46925200-46927400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr2:46925200-46927400	Active TSS	Left Ventricle	heart
18	chr2:46925200-46927600	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr2:46925200-46927600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:46925200-46927600	Active TSS	Brain Cingulate Gyrus	brain
21	chr2:46925200-46927600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:46925200-46927800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr2:46925200-46928000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr2:46925200-46928200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:46925200-46928400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:46925200-46928400	Active TSS	Right Atrium	heart
27	chr2:46925200-46928400	Active TSS	Right Ventricle	heart
28	chr2:46925200-46928800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr2:46925200-46928800	Active TSS	Stomach Smooth Muscle	stomach
30	chr2:46925200-46929200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:46925400-46926200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:46925400-46927000	Active TSS	Primary T cells from cord blood	blood
33	chr2:46925400-46927000	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr2:46925400-46927000	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr2:46925400-46927000	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr2:46925400-46927200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:46925400-46927200	Active TSS	Fetal Intestine Large	intestine
38	chr2:46925400-46927400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr2:46925400-46927400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:46925400-46927400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:46925400-46927400	Active TSS	Brain Angular Gyrus	brain
42	chr2:46925400-46927400	Active TSS	Esophagus	oesophagus
43	chr2:46925400-46927400	Active TSS	Pancreas	Pancrea
44	chr2:46925400-46927600	Active TSS	Fetal Lung	lung
45	chr2:46925400-46927600	Active TSS	Rectal Smooth Muscle	rectum
46	chr2:46925400-46927600	Bivalent/Poised TSS	HepG2	liver
47	chr2:46925400-46927800	Active TSS	Fetal Kidney	kidney
48	chr2:46925400-46927800	Active TSS	Psoas Muscle	Psoas
49	chr2:46925400-46928000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:46925400-46928000	Active TSS	Aorta	Aorta

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