Variant report

Variant	rs2286230
Chromosome Location	chr7:16648885-16648886
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16646853..16650643-chr7:16684954..16687917,3	MCF-7	breast:
2	chr7:16635320..16637285-chr7:16647888..16649843,2	K562	blood:
3	chr7:16647541..16650601-chr7:16652797..16655866,3	K562	blood:

Variant related genes	Relation type
ENSG00000106524	Chromatin interaction
ENSG00000136261	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10250902	0.84[ASN][1000 genomes]
rs10269268	0.90[CHB][hapmap]
rs10273896	0.91[CHB][hapmap]
rs10282627	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1044984	0.89[ASN][1000 genomes]
rs11765150	0.91[ASN][1000 genomes]
rs11772957	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13228317	0.91[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs13244745	0.92[ASN][1000 genomes]
rs2240434	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28498382	0.97[ASN][1000 genomes]
rs572570	0.81[CHB][hapmap]
rs6973195	0.89[ASN][1000 genomes]
rs6973197	0.89[ASN][1000 genomes]
rs71540757	0.97[EUR][1000 genomes]
rs7156	0.89[ASN][1000 genomes]
rs7796550	0.91[CHB][hapmap]
rs7796676	0.91[CHB][hapmap]
rs9655138	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv830912	chr7:16623196-16791974	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv887758	chr7:16632561-16668034	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv522819	chr7:16639615-16655387	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv887759	chr7:16642995-16686940	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16627800-16654200	Weak transcription	Brain Angular Gyrus	brain
2	chr7:16634200-16649600	Weak transcription	Hela-S3	cervix
3	chr7:16635600-16654800	Weak transcription	Spleen	Spleen
4	chr7:16636200-16649400	Weak transcription	Small Intestine	intestine
5	chr7:16636400-16682600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:16637400-16668400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:16637800-16649800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:16637800-16651600	Strong transcription	Fetal Muscle Leg	muscle
9	chr7:16637800-16652000	Strong transcription	Fetal Muscle Trunk	muscle
10	chr7:16637800-16654800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:16637800-16661600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:16637800-16664800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:16638000-16649000	Strong transcription	Fetal Stomach	stomach
14	chr7:16638000-16656200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:16638000-16658800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:16638000-16660200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:16638000-16670800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:16638200-16655200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:16638200-16656200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:16638200-16659800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:16638400-16654800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:16638400-16661600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:16638400-16670000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:16638400-16670200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:16639000-16654200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:16639000-16655000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:16639000-16656600	Strong transcription	Left Ventricle	heart
28	chr7:16639600-16655000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:16640400-16668000	Weak transcription	HSMMtube	muscle
30	chr7:16640600-16663400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:16640800-16659800	Weak transcription	NHEK	skin
32	chr7:16640800-16677000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:16642000-16674000	Weak transcription	Psoas Muscle	Psoas
34	chr7:16642600-16653800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:16643000-16659800	Weak transcription	Fetal Heart	heart
36	chr7:16643400-16654800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:16643400-16656200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:16643600-16649800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr7:16643600-16653600	Weak transcription	NH-A	brain
40	chr7:16643600-16663000	Weak transcription	HUVEC	blood vessel
41	chr7:16643600-16676000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr7:16643600-16681000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr7:16643800-16651000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:16643800-16654600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr7:16643800-16654800	Weak transcription	Brain Germinal Matrix	brain
46	chr7:16643800-16670200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:16644400-16677600	Weak transcription	Brain Substantia Nigra	brain
48	chr7:16644600-16649400	Weak transcription	Primary B cells from cord blood	blood
49	chr7:16644600-16653400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr7:16644600-16654800	Weak transcription	Aorta	Aorta

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