Variant report

Variant	rs41482150
Chromosome Location	chr2:46925142-46925143
allele	C/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	FOSL2	chr2:46924693-46926291	HepG2	liver:	n/a	chr2:46925640-46925647 chr2:46925638-46925647
2	TEAD4	chr2:46924885-46926138	HepG2	liver:	n/a	n/a
3	RFX5	chr2:46925038-46925223	HepG2	liver:	n/a	n/a
4	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
5	HNF4A	chr2:46924708-46925387	HepG2	liver:	n/a	chr2:46925106-46925121
6	SMARCB1	chr2:46925067-46927153	Hela-S3	cervix:	n/a	n/a
7	TCF12	chr2:46925027-46926468	A549	lung:	n/a	n/a
8	RCOR1	chr2:46924878-46925272	HepG2	liver:	n/a	n/a
9	MAFK	chr2:46925049-46925245	HepG2	liver:	n/a	n/a
10	MXI1	chr2:46924630-46927097	HepG2	liver:	n/a	chr2:46926004-46926013 chr2:46926023-46926032
11	MBD4	chr2:46924792-46926030	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:46925068-46926995	K562	blood:	n/a	n/a
13	ARID3A	chr2:46924704-46926145	HepG2	liver:	n/a	n/a
14	MXI1	chr2:46924884-46930732	SK-N-SH	brain:	n/a	chr2:46926004-46926013 chr2:46926023-46926032
15	POLR2A	chr2:46924999-46925166	HepG2	liver:	n/a	n/a
16	POLR2A	chr2:46924989-46926599	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr2:46925064-46927368	ProgFib	skin:	n/a	n/a
18	HNF4G	chr2:46924603-46925412	HepG2	liver:	n/a	chr2:46925107-46925122
19	HNF4G	chr2:46924695-46925464	HepG2	liver:	n/a	chr2:46925107-46925122
20	GATA3	chr2:46924626-46926424	A549	lung:	n/a	n/a
21	MBD4	chr2:46924861-46926123	HepG2	liver:	n/a	n/a
22	POLR2A	chr2:46924709-46926964	HepG2	liver:	n/a	n/a
23	EP300	chr2:46924793-46926247	HepG2	liver:	n/a	chr2:46926092-46926108 chr2:46925638-46925647
24	BRCA1	chr2:46925096-46925174	GM12878	blood:	n/a	n/a
25	HDAC2	chr2:46924908-46926232	HepG2	liver:	n/a	n/a
26	POLR2A	chr2:46924917-46926255	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr2:46924861-46926890	HepG2	liver:	n/a	n/a
28	POLR2A	chr2:46924787-46925358	HepG2	liver:	n/a	n/a
29	SREBP1	chr2:46924782-46926327	GM12878	blood:	n/a	chr2:46925915-46925924
30	HEY1	chr2:46924712-46926171	HepG2	liver:	n/a	n/a
31	MAX	chr2:46925123-46926394	HCT-116	colon:	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
32	NFIC	chr2:46924957-46926165	HepG2	liver:	n/a	n/a
33	E2F6	chr2:46925132-46926256	A549	lung:	n/a	chr2:46926147-46926162 chr2:46925661-46925670
34	FOXA2	chr2:46924728-46925178	HepG2	liver:	n/a	n/a
35	MYBL2	chr2:46924689-46926350	HepG2	liver:	n/a	n/a
36	MAX	chr2:46925060-46927319	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
37	HEY1	chr2:46924689-46926221	HepG2	liver:	n/a	n/a
38	POLR2A	chr2:46925125-46927030	Raji	blood:	n/a	n/a
39	TBP	chr2:46924851-46926561	HepG2	liver:	n/a	n/a
40	EP300	chr2:46924688-46926287	HepG2	liver:	n/a	chr2:46926092-46926108 chr2:46925638-46925647
41	JUN	chr2:46925020-46925263	HepG2	liver:	n/a	n/a
42	REST	chr2:46925118-46926312	A549	lung:	n/a	n/a
43	POLR2A	chr2:46924784-46925445	HepG2	liver:	n/a	n/a
44	HNF4A	chr2:46924813-46926258	HepG2	liver:	n/a	chr2:46925106-46925121
45	MYBL2	chr2:46924533-46926284	HepG2	liver:	n/a	n/a
46	ZNF143	chr2:46925120-46925181	K562	blood:	n/a	n/a
47	JUND	chr2:46925008-46925296	HepG2	liver:	n/a	n/a
48	POLR2A	chr2:46924687-46926155	HepG2	liver:	n/a	n/a
49	CHD1	chr2:46925099-46929421	IMR90	lung:	n/a	n/a
50	TBL1XR1	chr2:46925120-46925158	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:46925129-46925179	HPAEpiC	pulmonary alveolar:	n/a
2	chr2:46925129-46925179	SAEC	small airway:	n/a
3	chr2:46925129-46925179	HRCEpiC	kidney:	n/a
4	chr2:46925129-46925179	RPTEC	kidney:	n/a
5	chr2:46925129-46925179	SKMC	muscle:	n/a
6	chr2:46925129-46925179	NHBE	bronchial:	n/a
7	chr2:46925129-46925179	SK-N-MC	brain:	n/a
8	chr2:46925129-46925179	AG04449	skin:	fetal
9	chr2:46925129-46925179	ECC-1	luminal epithelium:	n/a
10	chr2:46925129-46925179	HMEC	breast:	n/a
11	chr2:46925129-46925179	U87	brain:	n/a
12	chr2:46925129-46925179	Hela-S3	cervix:	n/a
13	chr2:46925129-46925179	ProgFib	skin:	n/a
14	chr2:46925129-46925179	HIPEpiC	eye:	n/a
15	chr2:46925129-46925179	HCM	heart:	n/a
16	chr2:46925129-46925179	MCF10A-Er-Src	breast:	n/a
17	chr2:46925129-46925179	HEK293	kidney:	embryo
18	chr2:46925129-46925179	AG09309	skin:	n/a
19	chr2:46925129-46925179	BJ	skin:	n/a
20	chr2:46925129-46925179	H1-hESC	embryonic stem cell:	embryo
21	chr2:46925129-46925179	Jurkat	blood:	n/a
22	chr2:46925129-46925179	HCF	heart:	n/a
23	chr2:46925129-46925179	HepG2	liver:	n/a
24	chr2:46925129-46925179	HRPEpiC	eye:	n/a
25	chr2:46925129-46925179	HUVEC	blood vessel:	n/a
26	chr2:46925129-46925179	K562	blood:	n/a
27	chr2:46925129-46925179	IMR90	lung:	fetal
28	chr2:46925129-46925179	GM12891	blood:	n/a
29	chr2:46925129-46925179	PrEC	prostate:	n/a
30	chr2:46925129-46925179	PFSK-1	brain:	n/a
31	chr2:46925129-46925179	AG09319	gingival:	n/a
32	chr2:46925129-46925179	SK-N-SH	brain:	n/a
33	chr2:46925129-46925179	BE2_C	brain:	n/a
34	chr2:46925129-46925179	NT2-D1	testis:	n/a
35	chr2:46925129-46925179	AG10803	skin:	n/a
36	chr2:46925129-46925179	NH-A	brain:	n/a
37	chr2:46925129-46925179	HEEpiC	esophagus:	n/a
38	chr2:46925129-46925179	Caco-2	colon:	n/a
39	chr2:46925129-46925179	AoSMC	blood vessel:	n/a
40	chr2:46925129-46925179	Hepatocyte	liver:	n/a
41	chr2:46925129-46925179	SK-N-SH_RA	brain:	n/a
42	chr2:46925129-46925179	GM19239	blood:	n/a
43	chr2:46925129-46925179	GM12892	blood:	n/a
44	chr2:46925129-46925179	T-47D	breast:	n/a
45	chr2:46925129-46925179	NHDF-neo	bronchial:	n/a
46	chr2:46925129-46925179	LNCaP	prostate:	n/a
47	chr2:46925129-46925179	GM12878	blood:	n/a
48	chr2:46925129-46925179	GM06990	blood:	n/a
49	chr2:46925129-46925179	HCT-116	colon:	n/a
50	chr2:46925129-46925179	PANC-1	pancreas:	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	chr2:46915855..46917491-chr2:46923839..46925378,2	MCF-7	breast:
6	chr2:46923592..46925257-chr2:47030948..47032802,2	MCF-7	breast:
7	chr2:46919753..46923455-chr2:46923473..46925760,5	K562	blood:
8	chr2:46916264..46918533-chr2:46923065..46926019,3	K562	blood:

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs28447616	1.00[AMR][1000 genomes]
rs28685737	1.00[AMR][1000 genomes]
rs41324947	1.00[AMR][1000 genomes]
rs41359846	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46919200-46925200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:46919200-46925200	Weak transcription	NH-A	brain
3	chr2:46920400-46925200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:46922600-46925200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:46922600-46925400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:46923000-46925200	Weak transcription	HMEC	breast
7	chr2:46924200-46925200	Enhancers	Brain Germinal Matrix	brain
8	chr2:46924600-46925200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:46924600-46925200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr2:46924600-46925200	Flanking Active TSS	HepG2	liver
11	chr2:46924600-46929200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:46924800-46925200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr2:46924800-46925200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:46924800-46925200	Enhancers	Primary B cells from peripheral blood	blood
15	chr2:46924800-46925200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:46924800-46925200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr2:46924800-46925200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:46924800-46925200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr2:46924800-46925200	Enhancers	Colon Smooth Muscle	Colon
20	chr2:46924800-46925200	Enhancers	Fetal Intestine Large	intestine
21	chr2:46924800-46925200	Enhancers	Fetal Intestine Small	intestine
22	chr2:46924800-46925200	Enhancers	Fetal Thymus	thymus
23	chr2:46924800-46925200	Enhancers	Left Ventricle	heart
24	chr2:46924800-46925200	Enhancers	Pancreas	Pancrea
25	chr2:46924800-46925200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr2:46924800-46925200	Enhancers	Stomach Smooth Muscle	stomach
27	chr2:46924800-46925200	Enhancers	GM12878-XiMat	blood
28	chr2:46924800-46925400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:46924800-46925400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:46924800-46925400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:46924800-46925400	Enhancers	Placenta	Placenta
32	chr2:46924800-46925600	Enhancers	Gastric	stomach
33	chr2:46924800-46925600	Enhancers	Lung	lung
34	chr2:46924800-46925600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr2:46924800-46925800	Flanking Active TSS	Dnd41	blood
36	chr2:46924800-46928200	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr2:46925000-46925200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:46925000-46925200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:46925000-46925200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:46925000-46925200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:46925000-46925200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:46925000-46925200	Enhancers	Primary B cells from cord blood	blood
43	chr2:46925000-46925200	Enhancers	Primary T cells from cord blood	blood
44	chr2:46925000-46925200	Enhancers	Primary hematopoietic stem cells	blood
45	chr2:46925000-46925200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:46925000-46925200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr2:46925000-46925200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:46925000-46925200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:46925000-46925200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr2:46925000-46925200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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