Variant report

Variant	rs555550420
Chromosome Location	chr2:96195612-96195613
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr2:96192400-96196800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:96193000-96196400	Weak transcription	Spleen	Spleen
4	chr2:96193200-96195800	Weak transcription	Brain Substantia Nigra	brain
5	chr2:96193200-96196000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:96193200-96196600	Weak transcription	Osteobl	bone
7	chr2:96193200-96196800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:96193200-96197000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:96193200-96199000	Weak transcription	HSMMtube	muscle
10	chr2:96193400-96196000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:96193400-96196200	Weak transcription	Esophagus	oesophagus
12	chr2:96193400-96198000	Weak transcription	Colonic Mucosa	Colon
13	chr2:96193400-96199000	Weak transcription	Fetal Brain Male	brain
14	chr2:96193600-96195800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:96193600-96196000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:96193600-96196200	Weak transcription	HUVEC	blood vessel
17	chr2:96193600-96196600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:96193600-96196800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:96193600-96197000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:96193600-96198200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:96193600-96198800	Weak transcription	Fetal Thymus	thymus
22	chr2:96193800-96196400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:96193800-96196600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:96193800-96197000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr2:96193800-96197000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:96193800-96197400	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:96193800-96199000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:96193800-96200400	Weak transcription	Stomach Mucosa	stomach
29	chr2:96194000-96198000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:96194000-96198400	Weak transcription	HMEC	breast
31	chr2:96194200-96196600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:96194200-96197600	Strong transcription	HSMM	muscle
33	chr2:96194400-96195800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:96194400-96196000	Strong transcription	Primary T cells from cord blood	blood
35	chr2:96194400-96196200	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr2:96194400-96196800	Strong transcription	Brain Angular Gyrus	brain
37	chr2:96194400-96197600	ZNF genes & repeats	Aorta	Aorta
38	chr2:96194400-96197800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:96194400-96197800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr2:96194400-96197800	Genic enhancers	Gastric	stomach
41	chr2:96194400-96198000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:96194400-96198000	ZNF genes & repeats	Fetal Stomach	stomach
43	chr2:96194400-96207200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:96194600-96196200	Strong transcription	Brain Cingulate Gyrus	brain
45	chr2:96194600-96196400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:96194600-96196400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:96194600-96196800	ZNF genes & repeats	Ovary	ovary
48	chr2:96194600-96197000	Strong transcription	Adipose Nuclei	Adipose
49	chr2:96194600-96197600	Strong transcription	NHEK	skin
50	chr2:96194800-96195800	Genic enhancers	Left Ventricle	heart

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