Variant report

Variant	rs10228338
Chromosome Location	chr7:16856068-16856069
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16843083..16845664-chr7:16854797..16856624,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106541	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10227514	1.00[CEU][hapmap]
rs10228088	1.00[CEU][hapmap]
rs10237800	1.00[CEU][hapmap]
rs10260136	1.00[CEU][hapmap];0.82[YRI][hapmap];0.92[AFR][1000 genomes]
rs10273406	1.00[CEU][hapmap]
rs10275921	1.00[CEU][hapmap]
rs10279007	0.89[AFR][1000 genomes]
rs10280750	1.00[CEU][hapmap]
rs10282680	1.00[CEU][hapmap]
rs11976539	1.00[CEU][hapmap]
rs2177784	1.00[CEU][hapmap]
rs6968207	1.00[CEU][hapmap]
rs7777674	1.00[CEU][hapmap]
rs7802611	1.00[CEU][hapmap]
rs818492	1.00[CEU][hapmap]
rs818582	1.00[CEU][hapmap]
rs818584	1.00[CEU][hapmap]
rs9690166	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887761	chr7:16834361-17732490	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv887762	chr7:16834361-17746628	Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv887763	chr7:16834361-17750811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases
4	nsv887764	chr7:16839835-17218800	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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	16 gene(s)	inside rSNPs	diseases
5	nsv887765	chr7:16839835-17750811	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1027284	chr7:16849986-17008167	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv606339	chr7:16852808-17004301	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1016695	chr7:16854300-16991627	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1017413	chr7:16854300-17125005	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv538749	chr7:16854300-17125005	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv1015831	chr7:16854300-17732227	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	32 gene(s)	inside rSNPs	diseases
12	nsv538750	chr7:16854300-17732227	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16848000-16858200	Enhancers	Stomach Mucosa	stomach
2	chr7:16849400-16857600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:16851800-16856200	Weak transcription	Hela-S3	cervix
4	chr7:16851800-16856400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:16851800-16857200	Weak transcription	NH-A	brain
6	chr7:16851800-16858200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr7:16853200-16857200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:16853200-16857800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:16853200-16858600	Enhancers	A549	lung
10	chr7:16853400-16856800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:16853400-16857000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:16853400-16857400	Weak transcription	Osteobl	bone
13	chr7:16854400-16858000	Enhancers	Fetal Intestine Small	intestine
14	chr7:16854600-16857200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:16854800-16856200	Enhancers	Brain Hippocampus Middle	brain
16	chr7:16854800-16858200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:16855000-16856400	Weak transcription	Fetal Intestine Large	intestine
18	chr7:16855000-16857600	Weak transcription	HMEC	breast
19	chr7:16855000-16857800	Weak transcription	Esophagus	oesophagus
20	chr7:16855000-16858000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:16855200-16857400	Weak transcription	NHEK	skin
22	chr7:16855400-16856800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr7:16855600-16856600	Enhancers	Fetal Muscle Trunk	muscle
24	chr7:16855600-16858000	Enhancers	Primary hematopoietic stem cells	blood
25	chr7:16855600-16858200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:16855600-16860600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:16855800-16856600	Enhancers	Fetal Muscle Leg	muscle
28	chr7:16855800-16857200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:16856000-16856200	Weak transcription	Pancreas	Pancrea
30	chr7:16856000-16856200	Enhancers	HSMMtube	muscle
31	chr7:16856000-16856400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:16856000-16856600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr7:16856000-16856800	Enhancers	Primary B cells from peripheral blood	blood

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