Variant report

Variant	rs6717340
Chromosome Location	chr2:48604443-48604444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48604176..48606531-chr2:48606806..48608312,2	K562	blood:
2	chr2:48598202..48600856-chr2:48603158..48604738,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6716341	1.00[CHD][hapmap]
rs7574338	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv874002	chr2:48547751-48610367	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS 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 miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv874003	chr2:48570509-48619869	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48571200-48605200	Weak transcription	Colonic Mucosa	Colon
2	chr2:48578600-48604800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:48581400-48608000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:48581800-48604800	Weak transcription	Psoas Muscle	Psoas
5	chr2:48589400-48607400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:48590000-48607400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:48591600-48605000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:48592800-48605400	Strong transcription	HepG2	liver
9	chr2:48595200-48609200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:48595800-48605000	Weak transcription	Fetal Brain Male	brain
11	chr2:48597400-48608000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:48597800-48609400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:48598600-48607400	Weak transcription	Fetal Brain Female	brain
14	chr2:48598600-48609000	Weak transcription	Fetal Intestine Small	intestine
15	chr2:48598600-48612800	Weak transcription	Fetal Stomach	stomach
16	chr2:48598800-48605400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:48598800-48605400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:48599000-48605800	Strong transcription	Dnd41	blood
19	chr2:48599400-48608000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:48599600-48607800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:48599800-48606400	Strong transcription	HSMM	muscle
22	chr2:48599800-48607000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:48600000-48605200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:48600000-48606000	Strong transcription	NHDF-Ad	bronchial
25	chr2:48600000-48607400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:48600000-48607400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:48600000-48608000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:48600200-48605800	Strong transcription	Adipose Nuclei	Adipose
29	chr2:48600400-48605200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:48600400-48605200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:48600400-48605600	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:48600400-48607200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr2:48600400-48607400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:48600400-48607400	Strong transcription	A549	lung
35	chr2:48600400-48607600	Strong transcription	GM12878-XiMat	blood
36	chr2:48600600-48605400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:48600600-48605800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:48600600-48605800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:48600600-48607800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr2:48600800-48605000	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:48600800-48605800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:48600800-48605800	Strong transcription	Fetal Thymus	thymus
43	chr2:48600800-48607200	Strong transcription	Placenta	Placenta
44	chr2:48600800-48607400	Strong transcription	Liver	Liver
45	chr2:48600800-48607600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:48601000-48605000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:48601000-48605200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:48601000-48606600	Strong transcription	Primary B cells from cord blood	blood
49	chr2:48601000-48607000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:48601200-48604600	Strong transcription	HMEC	breast

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