Variant report

Variant	rs10276472
Chromosome Location	chr7:97771220-97771221
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97770445..97772942-chr7:97776101..97777659,2	K562	blood:
2	chr7:97734833..97736818-chr7:97769807..97771803,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164715	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10215577	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216274	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10227681	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10230846	0.80[ASN][1000 genomes]
rs10231625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10252338	0.87[AMR][1000 genomes]
rs10256262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261777	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10282336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282640	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12333559	0.81[AMR][1000 genomes]
rs12704966	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12704976	0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs13221415	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13221480	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13227746	0.84[AMR][1000 genomes]
rs13228463	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13228540	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs13241860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247901	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13311408	0.84[AMR][1000 genomes]
rs1532381	0.84[ASN][1000 genomes]
rs17169317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169330	0.87[ASN][1000 genomes]
rs28415802	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28681561	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34066772	0.84[AMR][1000 genomes]
rs34228515	1.00[CEU][hapmap]
rs34320281	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34353490	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35428901	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36020874	0.84[AMR][1000 genomes]
rs36050143	0.84[AMR][1000 genomes]
rs36081491	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6465655	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958785	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980318	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73404186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788997	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97745600-97781600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:97746400-97772600	Weak transcription	Fetal Kidney	kidney
3	chr7:97752600-97780800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:97760600-97772000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:97761400-97781000	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:97762600-97793000	Weak transcription	Fetal Heart	heart
7	chr7:97763200-97792600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:97763400-97772000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:97763400-97775000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:97763400-97801000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:97763400-97821000	Weak transcription	NHLF	lung
12	chr7:97763600-97771600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:97763600-97772000	Weak transcription	NHDF-Ad	bronchial
14	chr7:97763600-97788400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:97763600-97793000	Weak transcription	NH-A	brain
16	chr7:97763600-97814200	Weak transcription	Osteobl	bone
17	chr7:97763600-97815800	Weak transcription	HSMM	muscle
18	chr7:97763800-97784000	Weak transcription	HUVEC	blood vessel
19	chr7:97764000-97806200	Weak transcription	Psoas Muscle	Psoas
20	chr7:97764400-97780800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr7:97765400-97771800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr7:97765400-97780800	Weak transcription	Brain Angular Gyrus	brain
23	chr7:97765800-97840800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr7:97766000-97773600	Strong transcription	Primary T cells from cord blood	blood
25	chr7:97766000-97776200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr7:97766000-97778400	Weak transcription	Small Intestine	intestine
27	chr7:97766000-97778800	Strong transcription	Dnd41	blood
28	chr7:97766000-97795000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:97766200-97773800	Strong transcription	Fetal Intestine Small	intestine
30	chr7:97766200-97774200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:97766200-97781600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:97766200-97790000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr7:97766400-97771800	Weak transcription	Hela-S3	cervix
34	chr7:97766400-97775000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:97766400-97786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:97766600-97772800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:97766600-97773600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:97766600-97798400	Weak transcription	HSMMtube	muscle
39	chr7:97766800-97773400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:97766800-97774400	Strong transcription	Fetal Intestine Large	intestine
41	chr7:97766800-97774400	Strong transcription	Fetal Thymus	thymus
42	chr7:97766800-97775000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:97766800-97777000	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr7:97767000-97772400	Strong transcription	Adipose Nuclei	Adipose
45	chr7:97767000-97772400	Strong transcription	Fetal Stomach	stomach
46	chr7:97767000-97773000	Strong transcription	Left Ventricle	heart
47	chr7:97767000-97773000	Strong transcription	HepG2	liver
48	chr7:97767000-97773200	Strong transcription	Fetal Muscle Leg	muscle
49	chr7:97767000-97774600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr7:97767200-97773200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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