Variant report

Variant	rs12449025
Chromosome Location	chr16:70772187-70772188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70770493..70773338-chr16:70791778..70794267,2	MCF-7	breast:
2	chr16:70716873..70722425-chr16:70770832..70776787,8	MCF-7	breast:
3	chr16:70731581..70732230-chr16:70771694..70772666,3	MCF-7	breast:
4	chr16:70771729..70774154-chr16:70798370..70800004,2	MCF-7	breast:
5	chr16:70690342..70691295-chr16:70772056..70772920,4	MCF-7	breast:
6	chr16:70713079..70721608-chr16:70767367..70776352,14	MCF-7	breast:
7	chr16:70739967..70742335-chr16:70770927..70772720,2	MCF-7	breast:
8	chr16:70769869..70777910-chr16:70778144..70784375,13	MCF-7	breast:
9	chr16:70772019..70772938-chr16:70804684..70805569,3	MCF-7	breast:
10	chr16:70713628..70714432-chr16:70772096..70772602,2	MCF-7	breast:
11	chr16:70737004..70737719-chr16:70772011..70772709,2	MCF-7	breast:
12	chr16:70723003..70726342-chr16:70770518..70773354,4	K562	blood:
13	chr16:70690657..70692376-chr16:70770726..70773209,2	MCF-7	breast:
14	chr16:70748541..70749499-chr16:70771728..70772601,3	MCF-7	breast:
15	chr16:70708118..70709797-chr16:70771075..70773341,2	MCF-7	breast:
16	chr16:70715953..70716889-chr16:70771993..70772575,2	MCF-7	breast:
17	chr16:70771954..70772860-chr16:70804324..70805624,4	MCF-7	breast:
18	chr16:70716277..70717237-chr16:70772051..70772899,4	MCF-7	breast:
19	chr16:70747047..70751292-chr16:70770500..70773277,5	MCF-7	breast:
20	chr16:70771995..70773878-chr16:70778410..70779928,2	K562	blood:
21	chr16:70714806..70720740-chr16:70769240..70775659,10	K562	blood:
22	chr16:70749039..70749860-chr16:70771950..70772652,2	MCF-7	breast:
23	chr16:70690821..70691363-chr16:70772002..70772898,2	MCF-7	breast:
24	chr16:70687454..70688204-chr16:70772105..70772673,2	MCF-7	breast:
25	chr16:70745639..70748512-chr16:70770742..70772516,3	MCF-7	breast:
26	chr16:70767547..70769820-chr16:70770075..70772238,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000132613	Chromatin interaction
ENSG00000103043	Chromatin interaction
ENSG00000260156	Chromatin interaction
ENSG00000157368	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2305688	0.94[ASW][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.80[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3785422	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers 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 miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1059226	chr16:70708698-70779144	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	nsv906889	chr16:70724001-70790831	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv906890	chr16:70740707-70790831	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70754400-70776600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:70754400-70780000	Weak transcription	Hela-S3	cervix
3	chr16:70755600-70774200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr16:70760000-70784200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:70761200-70777600	Weak transcription	K562	blood
6	chr16:70762200-70778200	Weak transcription	Ovary	ovary
7	chr16:70762400-70779600	Weak transcription	Aorta	Aorta
8	chr16:70762600-70774600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr16:70763400-70773000	Weak transcription	Fetal Brain Female	brain
10	chr16:70765400-70773200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr16:70765600-70772200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:70767600-70774600	Enhancers	Fetal Muscle Leg	muscle
13	chr16:70768600-70772400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr16:70768600-70776200	Enhancers	NHDF-Ad	bronchial
15	chr16:70768800-70772200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:70768800-70772200	Enhancers	Psoas Muscle	Psoas
17	chr16:70768800-70772800	Enhancers	Adipose Nuclei	Adipose
18	chr16:70768800-70772800	Enhancers	Fetal Muscle Trunk	muscle
19	chr16:70768800-70773200	Enhancers	Placenta	Placenta
20	chr16:70768800-70773600	Enhancers	Right Ventricle	heart
21	chr16:70768800-70774800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr16:70768800-70774800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr16:70768800-70776400	Genic enhancers	Fetal Stomach	stomach
24	chr16:70769000-70772600	Enhancers	Colonic Mucosa	Colon
25	chr16:70769200-70772400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr16:70769200-70772800	Enhancers	Lung	lung
27	chr16:70769200-70773200	Enhancers	Fetal Lung	lung
28	chr16:70769200-70776000	Enhancers	Fetal Heart	heart
29	chr16:70769400-70773000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr16:70769600-70772200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr16:70769600-70773000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr16:70769800-70772400	Enhancers	Right Atrium	heart
33	chr16:70769800-70774800	Weak transcription	Fetal Kidney	kidney
34	chr16:70769800-70775600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr16:70770000-70772200	Enhancers	Spleen	Spleen
36	chr16:70770200-70772800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr16:70770200-70773000	Enhancers	Left Ventricle	heart
38	chr16:70770200-70774000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr16:70770200-70776600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr16:70770400-70772600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr16:70770400-70773000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr16:70770400-70775600	Enhancers	Primary hematopoietic stem cells	blood
43	chr16:70770600-70772600	Enhancers	NH-A	brain
44	chr16:70770600-70773200	Enhancers	Brain Cingulate Gyrus	brain
45	chr16:70770600-70773200	Enhancers	Brain Hippocampus Middle	brain
46	chr16:70770600-70773600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr16:70770600-70777200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr16:70770800-70772200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr16:70770800-70772400	Genic enhancers	Fetal Intestine Large	intestine
50	chr16:70770800-70772400	Enhancers	HMEC	breast

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