Variant report

Variant	rs545482672
Chromosome Location	chr2:96197207-96197208
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	PML	chr2:96196358-96197300	GM12878	blood:	n/a	n/a
3	IKZF1	chr2:96196542-96197305	GM12878	blood:	n/a	n/a
4	NFATC1	chr2:96197067-96197684	GM12878	blood:	n/a	n/a
5	FOS	chr2:96197203-96197510	MCF10A-Er-Src	breast:	n/a	n/a
6	KAP1	chr2:96197123-96197631	U2OS	brain:	n/a	n/a
7	KAP1	chr2:96197032-96197735	HEK293	kidney:	n/a	n/a
8	MTA3	chr2:96196513-96197211	GM12878	blood:	n/a	n/a
9	NFATC1	chr2:96197033-96197678	GM12878	blood:	n/a	n/a
10	MTA3	chr2:96196360-96197699	GM12878	blood:	n/a	n/a
11	RELA	chr2:96196483-96197587	GM19193	blood:	n/a	n/a
12	CREB1	chr2:96196294-96197258	GM12878	blood:	n/a	n/a
13	CREB1	chr2:96196432-96197228	GM12878	blood:	n/a	n/a
14	RELA	chr2:96196545-96197541	GM19099	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:96197171..96199687-chr2:96228199..96230029,2	MCF-7	breast:

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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96192200-96197800	Weak transcription	Fetal Heart	heart
2	chr2:96193200-96199000	Weak transcription	HSMMtube	muscle
3	chr2:96193400-96198000	Weak transcription	Colonic Mucosa	Colon
4	chr2:96193400-96199000	Weak transcription	Fetal Brain Male	brain
5	chr2:96193600-96198200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:96193600-96198800	Weak transcription	Fetal Thymus	thymus
7	chr2:96193800-96197400	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:96193800-96199000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:96193800-96200400	Weak transcription	Stomach Mucosa	stomach
10	chr2:96194000-96198000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:96194000-96198400	Weak transcription	HMEC	breast
12	chr2:96194200-96197600	Strong transcription	HSMM	muscle
13	chr2:96194400-96197600	ZNF genes & repeats	Aorta	Aorta
14	chr2:96194400-96197800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:96194400-96197800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr2:96194400-96197800	Genic enhancers	Gastric	stomach
17	chr2:96194400-96198000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:96194400-96198000	ZNF genes & repeats	Fetal Stomach	stomach
19	chr2:96194400-96207200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:96194600-96197600	Strong transcription	NHEK	skin
21	chr2:96194800-96197400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:96194800-96197600	Strong transcription	Thymus	Thymus
23	chr2:96194800-96197800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:96194800-96197800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:96194800-96197800	Strong transcription	Fetal Brain Female	brain
26	chr2:96195000-96197600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:96195000-96197600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:96195000-96197600	Strong transcription	Fetal Intestine Large	intestine
29	chr2:96195000-96197800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr2:96195000-96198000	Strong transcription	Liver	Liver
31	chr2:96195200-96197400	Strong transcription	Stomach Smooth Muscle	stomach
32	chr2:96195200-96197600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:96195200-96199000	Weak transcription	Fetal Kidney	kidney
34	chr2:96195400-96197400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:96195600-96197600	Strong transcription	Primary hematopoietic stem cells	blood
36	chr2:96195600-96197600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:96195600-96197800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:96195600-96197800	Strong transcription	Brain Hippocampus Middle	brain
39	chr2:96195600-96197800	Strong transcription	Fetal Muscle Leg	muscle
40	chr2:96195600-96197800	Strong transcription	NHLF	lung
41	chr2:96195800-96197800	Strong transcription	Left Ventricle	heart
42	chr2:96195800-96198200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:96195800-96201600	Weak transcription	Fetal Lung	lung
44	chr2:96196000-96197800	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr2:96196000-96197800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:96196000-96198000	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr2:96196200-96197800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:96196200-96198600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:96196200-96198600	Strong transcription	Fetal Intestine Small	intestine
50	chr2:96196400-96197600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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