Variant report

Variant	rs4663055
Chromosome Location	chr2:127643773-127643774
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127643679..127644563-chr2:127807789..127808402,4	MCF-7	breast:
2	chr2:127643515..127644193-chr2:127729132..127729892,3	MCF-7	breast:
3	chr2:127643178..127645880-chr2:127648030..127650091,2	K562	blood:
4	chr2:127643258..127645447-chr2:127648554..127651485,2	MCF-7	breast:
5	chr2:127534763..127535468-chr2:127643597..127644526,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4662690	0.80[AFR][1000 genomes]
rs6721526	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6725321	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv834365	chr2:127616996-127793863	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv834366	chr2:127633714-127784692	Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1004166	chr2:127634679-127672143	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv979341	chr2:127636237-127648526	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127636400-127643800	Weak transcription	Right Atrium	heart
2	chr2:127637600-127643800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:127637600-127643800	Weak transcription	Gastric	stomach
4	chr2:127637800-127643800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:127643000-127644200	Enhancers	Fetal Lung	lung
6	chr2:127643000-127644800	Enhancers	Fetal Kidney	kidney
7	chr2:127643200-127643800	Bivalent Enhancer	Right Ventricle	heart
8	chr2:127643200-127644400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:127643200-127644800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:127643400-127643800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:127643400-127643800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:127643400-127643800	Flanking Active TSS	Ovary	ovary
13	chr2:127643400-127644000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:127643400-127644000	Flanking Active TSS	Fetal Muscle Trunk	muscle
15	chr2:127643400-127644200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:127643400-127644200	Active TSS	Colon Smooth Muscle	Colon
17	chr2:127643400-127644200	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr2:127643400-127644400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:127643400-127644600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:127643400-127644600	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr2:127643400-127644600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr2:127643400-127644800	Enhancers	Spleen	Spleen
23	chr2:127643600-127643800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:127643600-127643800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:127643600-127643800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:127643600-127643800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:127643600-127643800	Flanking Active TSS	Esophagus	oesophagus
28	chr2:127643600-127643800	Flanking Active TSS	Fetal Brain Female	brain
29	chr2:127643600-127643800	Enhancers	Pancreas	Pancrea
30	chr2:127643600-127643800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr2:127643600-127643800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr2:127643600-127644000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
33	chr2:127643600-127644000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr2:127643600-127644000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:127643600-127644000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
36	chr2:127643600-127644000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
37	chr2:127643600-127644000	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr2:127643600-127644000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:127643600-127644000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
40	chr2:127643600-127644000	Active TSS	Brain Angular Gyrus	brain
41	chr2:127643600-127644000	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr2:127643600-127644000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr2:127643600-127644000	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr2:127643600-127644000	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr2:127643600-127644000	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr2:127643600-127644000	Flanking Active TSS	Fetal Stomach	stomach
47	chr2:127643600-127644000	Flanking Active TSS	Psoas Muscle	Psoas
48	chr2:127643600-127644000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
49	chr2:127643600-127644000	Flanking Active TSS	NH-A	brain
50	chr2:127643600-127644000	Active TSS	NHDF-Ad	bronchial

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