Variant report

Variant	rs534555276
Chromosome Location	chr2:96196391-96196392
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	NFIC	chr2:96196389-96197586	GM12878	blood:	n/a	n/a
2	JUND	chr2:96196275-96196978	SK-N-SH	brain:	n/a	n/a
3	PML	chr2:96196358-96197300	GM12878	blood:	n/a	n/a
4	NFATC1	chr2:96196378-96196870	GM12878	blood:	n/a	n/a
5	CEBPB	chr2:96196312-96196446	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:96196296-96196721	GM12891	blood:	n/a	n/a
7	STAT5A	chr2:96196247-96196806	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:96196319-96196829	U87	brain:	n/a	n/a
9	IRF4	chr2:96196348-96196917	GM12878	blood:	n/a	n/a
10	IRF4	chr2:96196371-96196863	GM12878	blood:	n/a	n/a
11	WRNIP1	chr2:96196367-96196753	GM12878	blood:	n/a	n/a
12	PAX5	chr2:96196311-96196971	GM12878	blood:	n/a	n/a
13	POLR2A	chr2:96196229-96196753	GM12892	blood:	n/a	n/a
14	POLR2A	chr2:96196373-96196859	U87	brain:	n/a	n/a
15	POLR2A	chr2:96196383-96196747	IMR90	lung:	n/a	n/a
16	MTA3	chr2:96196360-96197699	GM12878	blood:	n/a	n/a
17	NFATC1	chr2:96196380-96196923	GM12878	blood:	n/a	n/a
18	POLR2A	chr2:96196298-96196911	GM12892	blood:	n/a	n/a
19	POLR2A	chr2:96196105-96197103	GM12892	blood:	n/a	n/a
20	BCL3	chr2:96196371-96196868	GM12878	blood:	n/a	n/a
21	FOSL2	chr2:96196329-96196942	SK-N-SH	brain:	n/a	n/a
22	BATF	chr2:96196382-96197020	GM12878	blood:	n/a	n/a
23	CEBPB	chr2:96196346-96196776	IMR90	lung:	n/a	n/a
24	POLR2A	chr2:96196219-96196906	GM12892	blood:	n/a	n/a
25	MXI1	chr2:96196073-96196778	IMR90	lung:	n/a	n/a
26	ATF2	chr2:96196364-96196820	GM12878	blood:	n/a	n/a
27	FOS	chr2:96196211-96196764	MCF10A-Er-Src	breast:	n/a	n/a
28	CREB1	chr2:96196294-96197258	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000272913	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3416818	chr2:96072529-96680708	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv834300	chr2:96087967-96337557	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv874660	chr2:96091132-96669134	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv516044	chr2:96150959-96683378	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv1006283	chr2:96159804-96206863	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1001305	chr2:96161688-96259200	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1008062	chr2:96166970-96259200	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv998984	chr2:96166970-96290275	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv998587	chr2:96170558-96378228	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv961452	chr2:96195565-96199535	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96192200-96197800	Weak transcription	Fetal Heart	heart
2	chr2:96192400-96196800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:96193000-96196400	Weak transcription	Spleen	Spleen
4	chr2:96193200-96196600	Weak transcription	Osteobl	bone
5	chr2:96193200-96196800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:96193200-96197000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:96193200-96199000	Weak transcription	HSMMtube	muscle
8	chr2:96193400-96198000	Weak transcription	Colonic Mucosa	Colon
9	chr2:96193400-96199000	Weak transcription	Fetal Brain Male	brain
10	chr2:96193600-96196600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr2:96193600-96196800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:96193600-96197000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:96193600-96198200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:96193600-96198800	Weak transcription	Fetal Thymus	thymus
15	chr2:96193800-96196400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:96193800-96196600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:96193800-96197000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:96193800-96197000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:96193800-96197400	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:96193800-96199000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:96193800-96200400	Weak transcription	Stomach Mucosa	stomach
22	chr2:96194000-96198000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:96194000-96198400	Weak transcription	HMEC	breast
24	chr2:96194200-96196600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:96194200-96197600	Strong transcription	HSMM	muscle
26	chr2:96194400-96196800	Strong transcription	Brain Angular Gyrus	brain
27	chr2:96194400-96197600	ZNF genes & repeats	Aorta	Aorta
28	chr2:96194400-96197800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:96194400-96197800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr2:96194400-96197800	Genic enhancers	Gastric	stomach
31	chr2:96194400-96198000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:96194400-96198000	ZNF genes & repeats	Fetal Stomach	stomach
33	chr2:96194400-96207200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:96194600-96196400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:96194600-96196400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:96194600-96196800	ZNF genes & repeats	Ovary	ovary
37	chr2:96194600-96197000	Strong transcription	Adipose Nuclei	Adipose
38	chr2:96194600-96197600	Strong transcription	NHEK	skin
39	chr2:96194800-96196400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:96194800-96196800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:96194800-96197400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:96194800-96197600	Strong transcription	Thymus	Thymus
43	chr2:96194800-96197800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:96194800-96197800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:96194800-96197800	Strong transcription	Fetal Brain Female	brain
46	chr2:96195000-96196400	Strong transcription	Brain Germinal Matrix	brain
47	chr2:96195000-96197200	ZNF genes & repeats	Lung	lung
48	chr2:96195000-96197600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:96195000-96197600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:96195000-96197600	Strong transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links