Variant report

Variant	rs7296646
Chromosome Location	chr12:1715912-1715913
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:1714073..1716320-chr12:1769729..1772377,3	K562	blood:
2	chr12:1699689..1706116-chr12:1713524..1719359,13	MCF-7	breast:
3	chr12:1702465..1707367-chr12:1707740..1717720,20	K562	blood:
4	chr12:1713956..1716010-chr12:1769729..1772627,2	K562	blood:
5	chr12:1713815..1716830-chr12:1725934..1728212,3	K562	blood:
6	chr12:1713181..1716889-chr12:1718186..1722611,7	K562	blood:
7	chr12:1699199..1708657-chr12:1712989..1721243,16	MCF-7	breast:
8	chr12:1710106..1713185-chr12:1713839..1716585,4	K562	blood:
9	chr12:1713456..1716341-chr12:1722548..1725972,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111186	Chromatin interaction
ENSG00000171823	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12305461	0.83[EUR][1000 genomes]
rs12311873	0.85[EUR][1000 genomes]
rs55683645	0.83[EUR][1000 genomes]
rs7303661	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv898586	chr12:1690140-1734365	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv1834423	chr12:1703324-1727170	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
11	esv3372221	chr12:1712091-1716389	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1711800-1717200	Weak transcription	Dnd41	blood
2	chr12:1714600-1716200	Enhancers	Lung	lung
3	chr12:1714600-1719000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:1715000-1716200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:1715000-1716200	Enhancers	Small Intestine	intestine
6	chr12:1715200-1716000	Enhancers	Primary B cells from cord blood	blood
7	chr12:1715200-1716200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:1715200-1720200	Enhancers	Stomach Mucosa	stomach
9	chr12:1715200-1723600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:1715200-1725800	Weak transcription	Esophagus	oesophagus
11	chr12:1715400-1716000	Enhancers	Fetal Muscle Leg	muscle
12	chr12:1715400-1716200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:1715400-1716200	Enhancers	Adipose Nuclei	Adipose
14	chr12:1715400-1716200	Enhancers	Colonic Mucosa	Colon
15	chr12:1715400-1716200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:1715400-1716200	Enhancers	Fetal Intestine Large	intestine
17	chr12:1715400-1716200	Enhancers	Fetal Muscle Trunk	muscle
18	chr12:1715400-1716200	Enhancers	Fetal Stomach	stomach
19	chr12:1715400-1716200	Enhancers	Fetal Thymus	thymus
20	chr12:1715400-1716600	Enhancers	HepG2	liver
21	chr12:1715400-1717000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr12:1715400-1717000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:1715400-1718200	Weak transcription	Pancreas	Pancrea
24	chr12:1715400-1719600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:1715400-1721800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr12:1715400-1738600	Weak transcription	Right Atrium	heart
27	chr12:1715600-1716000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:1715600-1716200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:1715600-1716200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:1715600-1716200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:1715600-1716200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:1715600-1716200	Enhancers	Fetal Heart	heart
33	chr12:1715600-1716200	Enhancers	Fetal Intestine Small	intestine
34	chr12:1715600-1716200	Enhancers	Fetal Lung	lung
35	chr12:1715600-1716200	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr12:1715600-1716200	Enhancers	HMEC	breast
37	chr12:1715600-1716200	Enhancers	HUVEC	blood vessel
38	chr12:1715600-1716400	Enhancers	Placenta	Placenta
39	chr12:1715600-1716400	Enhancers	Stomach Smooth Muscle	stomach
40	chr12:1715600-1716400	Enhancers	HSMM	muscle
41	chr12:1715600-1716600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
42	chr12:1715600-1716800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr12:1715600-1716800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:1715600-1717200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:1715600-1717800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr12:1715600-1717800	Weak transcription	Ovary	ovary
47	chr12:1715600-1718000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:1715600-1720800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:1715600-1720800	Weak transcription	Fetal Brain Male	brain
50	chr12:1715600-1721000	Weak transcription	Fetal Brain Female	brain

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