Variant report

Variant	rs566911977
Chromosome Location	chr2:99872119-99872120
allele	C/T
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	USF1	chr2:99871880-99872445	HCT-116	colon:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
2	NFE2	chr2:99872098-99872221	GM12878	blood:	n/a	chr2:99872153-99872162 chr2:99872130-99872139
3	USF2	chr2:99872050-99872315	Hela-S3	cervix:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
4	USF1	chr2:99871970-99872257	K562	blood:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
5	USF1	chr2:99872028-99872190	HepG2	liver:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
6	GABPA	chr2:99871922-99872870	HL-60	blood:	n/a	n/a
7	USF2	chr2:99871979-99872308	HepG2	liver:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
8	USF2	chr2:99872010-99872248	H1-hESC	embryonic stem cell:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
9	USF1	chr2:99871988-99872319	H1-hESC	embryonic stem cell:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
10	USF1	chr2:99871926-99872461	ECC-1	luminal epithelium:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
11	USF1	chr2:99872033-99872238	HepG2	liver:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
12	GABPA	chr2:99872114-99872739	HL-60	blood:	n/a	n/a
13	USF1	chr2:99872039-99872304	SK-N-SH	brain:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
14	USF1	chr2:99872018-99872315	ECC-1	luminal epithelium:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
15	SPI1	chr2:99872064-99872817	HL-60	blood:	n/a	chr2:99872381-99872388
16	USF1	chr2:99871926-99872286	H1-hESC	embryonic stem cell:	n/a	chr2:99872128-99872139 chr2:99872151-99872162

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:99872119-99872169	GM12892	blood:	n/a
2	chr2:99872119-99872169	GM19239	blood:	n/a
3	chr2:99872119-99872169	AG04450	lung:	fetal
4	chr2:99872119-99872169	SK-N-SH_RA	brain:	n/a
5	chr2:99872119-99872169	GM12891	blood:	n/a
6	chr2:99872119-99872169	HEK293	kidney:	embryo
7	chr2:99872119-99872169	Hepatocyte	liver:	n/a
8	chr2:99872119-99872169	SK-N-SH	brain:	n/a
9	chr2:99872119-99872169	T-47D	breast:	n/a
10	chr2:99872119-99872169	HUVEC	blood vessel:	n/a
11	chr2:99872119-99872169	K562	blood:	n/a
12	chr2:99872119-99872169	PFSK-1	brain:	n/a
13	chr2:99872119-99872169	HIPEpiC	eye:	n/a
14	chr2:99872119-99872169	AG09319	gingival:	n/a
15	chr2:99872119-99872169	AG10803	skin:	n/a
16	chr2:99872119-99872169	NHDF-neo	bronchial:	n/a
17	chr2:99872119-99872169	HRPEpiC	eye:	n/a
18	chr2:99872119-99872169	HepG2	liver:	n/a
19	chr2:99872119-99872169	AoSMC	blood vessel:	n/a
20	chr2:99872119-99872169	SKMC	muscle:	n/a
21	chr2:99872119-99872169	HCT-116	colon:	n/a
22	chr2:99872119-99872169	HCM	heart:	n/a
23	chr2:99872119-99872169	ProgFib	skin:	n/a
24	chr2:99872119-99872169	Jurkat	blood:	n/a
25	chr2:99872119-99872169	H1-hESC	embryonic stem cell:	embryo
26	chr2:99872119-99872169	NHBE	bronchial:	n/a
27	chr2:99872119-99872169	HRCEpiC	kidney:	n/a
28	chr2:99872119-99872169	HL-60	blood:	n/a
29	chr2:99872119-99872169	HMEC	breast:	n/a
30	chr2:99872119-99872169	RPTEC	kidney:	n/a
31	chr2:99872119-99872169	MCF-7	breast:	n/a
32	chr2:99872119-99872169	SK-N-MC	brain:	n/a
33	chr2:99872119-99872169	AG04449	skin:	fetal
34	chr2:99872119-99872169	LNCaP	prostate:	n/a
35	chr2:99872119-99872169	U87	brain:	n/a
36	chr2:99872119-99872169	SAEC	small airway:	n/a
37	chr2:99872119-99872169	HRE	kidney:	n/a
38	chr2:99872119-99872169	GM12878	blood:	n/a
39	chr2:99872119-99872169	HPAEpiC	pulmonary alveolar:	n/a
40	chr2:99872119-99872169	GM06990	blood:	n/a
41	chr2:99872119-99872169	BJ	skin:	n/a
42	chr2:99872119-99872169	NB4	blood:	n/a
43	chr2:99872119-99872169	NH-A	brain:	n/a
44	chr2:99872119-99872169	PANC-1	pancreas:	n/a
45	chr2:99872119-99872169	HCF	heart:	n/a
46	chr2:99872119-99872169	NT2-D1	testis:	n/a
47	chr2:99872119-99872169	CMK	blood:	n/a
48	chr2:99872119-99872169	Hela-S3	cervix:	n/a
49	chr2:99872119-99872169	BE2_C	brain:	n/a
50	chr2:99872119-99872169	HNPCEpiC	eye:	n/a

Variant related genes	Relation type
LYG2	TF binding region
LYG2	CpG island

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv961842	chr2:99781138-99886836	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv515702	chr2:99827733-99922967	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv458685	chr2:99827733-99922967	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv582519	chr2:99827733-99922967	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv874698	chr2:99827733-99924918	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv1001784	chr2:99838079-99910328	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv535840	chr2:99838079-99910328	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv458696	chr2:99838203-99922967	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv582520	chr2:99838203-99922967	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv997436	chr2:99840131-99916886	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv1009872	chr2:99840131-99924543	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv1001194	chr2:99840131-99928323	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	esv2762746	chr2:99840143-99916898	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	nsv1005118	chr2:99841951-99924543	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	nsv1001736	chr2:99846306-99916886	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	nsv1009459	chr2:99846306-99918895	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	nsv1002169	chr2:99846306-99924543	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
19	esv2751904	chr2:99847882-99913998	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
20	nsv1001235	chr2:99847890-99913998	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
21	nsv582521	chr2:99847890-99922967	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
22	nsv1007566	chr2:99847890-99924543	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
23	nsv999059	chr2:99847890-99926934	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
24	nsv1007249	chr2:99855978-99916886	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
25	nsv1004291	chr2:99855978-99919999	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
26	nsv1010419	chr2:99857259-99897312	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	nsv1003262	chr2:99858556-99924543	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
28	esv2842	chr2:99871889-99874318	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99840800-99874400	Weak transcription	Aorta	Aorta
2	chr2:99860400-99899800	Weak transcription	Psoas Muscle	Psoas
3	chr2:99861200-99879200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:99861200-99900800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:99861800-99899400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:99862000-99879200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:99869800-99880000	Weak transcription	Right Ventricle	heart
8	chr2:99872000-99872200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:99872000-99873200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr2:99872000-99873800	Enhancers	HMEC	breast

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