Variant report

Variant	rs4749368
Chromosome Location	chr10:29228259-29228260
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:29228163..29228761-chr10:29280408..29280941,2	MCF-7	breast:
2	chr10:29190942..29195012-chr10:29226002..29228812,3	MCF-7	breast:
3	chr10:29227727..29230337-chr10:29232010..29233975,2	MCF-7	breast:
4	chr10:28964812..28967283-chr10:29227870..29229678,2	MCF-7	breast:
5	chr10:29166472..29169094-chr10:29227356..29229306,2	MCF-7	breast:
6	chr10:29218378..29221369-chr10:29226756..29229435,2	K562	blood:
7	chr10:29227516..29230406-chr10:29237198..29239651,4	K562	blood:
8	chr10:29222000..29224796-chr10:29227602..29229701,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000095739	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11007321	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1539443	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1578618	0.80[ASN][1000 genomes]
rs1624345	0.91[ASN][1000 genomes]
rs1691910	0.91[ASN][1000 genomes]
rs1691915	0.91[ASN][1000 genomes]
rs1691917	0.91[ASN][1000 genomes]
rs1691928	0.91[ASN][1000 genomes]
rs1832844	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1908573	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132322	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2132323	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2453618	0.91[ASN][1000 genomes]
rs3947425	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749364	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4749369	0.91[ASN][1000 genomes]
rs703041	1.00[ASN][1000 genomes]
rs787355	1.00[ASN][1000 genomes]
rs788066	1.00[JPT][hapmap]
rs7894551	0.84[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7897902	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs805198	0.82[ASN][1000 genomes]
rs813111	0.91[ASN][1000 genomes]
rs970257	0.84[CEU][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1041555	chr10:28419399-29304934	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS 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
2	nsv1037863	chr10:28419399-29378871	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS 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	nsv540521	chr10:28419399-29378871	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv1043820	chr10:29172894-29259450	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1040780	chr10:29172894-29260154	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:29226600-29228600	Enhancers	Fetal Heart	heart
2	chr10:29227200-29228600	Enhancers	Duodenum Smooth Muscle	Duodenum
3	chr10:29227400-29228400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr10:29227400-29228400	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr10:29227400-29228800	Enhancers	HSMMtube	muscle
6	chr10:29227400-29229200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:29227600-29228600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr10:29227800-29228400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:29227800-29228600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:29227800-29228800	Bivalent/Poised TSS	HepG2	liver
11	chr10:29227800-29230000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:29228000-29228400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr10:29228000-29228400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr10:29228000-29228400	Bivalent Enhancer	Stomach Mucosa	stomach
15	chr10:29228000-29228600	Enhancers	Fetal Kidney	kidney
16	chr10:29228000-29228600	Active TSS	K562	blood
17	chr10:29228000-29228600	Enhancers	NH-A	brain
18	chr10:29228000-29228800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr10:29228000-29228800	Flanking Active TSS	Liver	Liver
20	chr10:29228000-29228800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
21	chr10:29228000-29229000	Enhancers	Fetal Stomach	stomach
22	chr10:29228000-29229200	Enhancers	HSMM	muscle
23	chr10:29228000-29229400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr10:29228200-29228400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:29228200-29228400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr10:29228200-29228400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:29228200-29228400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr10:29228200-29228400	Active TSS	Fetal Intestine Large	intestine
29	chr10:29228200-29228400	Flanking Active TSS	Fetal Lung	lung
30	chr10:29228200-29228600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:29228200-29228600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:29228200-29228600	Enhancers	Left Ventricle	heart
33	chr10:29228200-29228600	Enhancers	Psoas Muscle	Psoas
34	chr10:29228200-29228800	Enhancers	Colonic Mucosa	Colon
35	chr10:29228200-29228800	Enhancers	Gastric	stomach
36	chr10:29228200-29228800	Enhancers	Lung	lung
37	chr10:29228200-29228800	Enhancers	Pancreas	Pancrea
38	chr10:29228200-29228800	Genic enhancers	Right Atrium	heart
39	chr10:29228200-29229000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr10:29228200-29229000	Active TSS	H9 Cell Line	embryonic stem cell
41	chr10:29228200-29229000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr10:29228200-29229000	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr10:29228200-29229000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr10:29228200-29229000	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr10:29228200-29229000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr10:29228200-29229000	Enhancers	Placenta	Placenta
47	chr10:29228200-29229000	Enhancers	Ovary	ovary
48	chr10:29228200-29229200	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr10:29228200-29229200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr10:29228200-29229200	Active TSS	H1 Cell Line	embryonic stem cell

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