Variant report

Variant	rs6977321
Chromosome Location	chr7:97774859-97774860
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	chr7:97764283..97766724-chr7:97772690..97775422,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10464490	0.81[EUR][1000 genomes]
rs11762534	0.86[AMR][1000 genomes]
rs11763970	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11764933	0.95[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11765552	0.96[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11767962	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11768309	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12666406	1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12670686	0.83[AMR][1000 genomes]
rs12674083	0.83[AMR][1000 genomes]
rs13221758	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17435590	0.96[CEU][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17435847	0.96[CEU][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2132276	0.95[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34307903	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34320230	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35641135	0.82[EUR][1000 genomes]
rs3801294	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6465654	0.91[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6465657	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6465658	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6946915	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6958572	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6965016	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6967926	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6969384	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7791463	1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7804318	0.95[CEU][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7808528	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs940432	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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
10	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS 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	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6977321	DKFZP434B0335	Cis_1M	lymphoblastoid	RTeQTL
rs6977321	BAIAP2L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 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	chr7:97752600-97780800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:97761400-97781000	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:97762600-97793000	Weak transcription	Fetal Heart	heart
5	chr7:97763200-97792600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:97763400-97775000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:97763400-97801000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:97763400-97821000	Weak transcription	NHLF	lung
9	chr7:97763600-97788400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:97763600-97793000	Weak transcription	NH-A	brain
11	chr7:97763600-97814200	Weak transcription	Osteobl	bone
12	chr7:97763600-97815800	Weak transcription	HSMM	muscle
13	chr7:97763800-97784000	Weak transcription	HUVEC	blood vessel
14	chr7:97764000-97806200	Weak transcription	Psoas Muscle	Psoas
15	chr7:97764400-97780800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:97765400-97780800	Weak transcription	Brain Angular Gyrus	brain
17	chr7:97765800-97840800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:97766000-97776200	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr7:97766000-97778400	Weak transcription	Small Intestine	intestine
20	chr7:97766000-97778800	Strong transcription	Dnd41	blood
21	chr7:97766000-97795000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:97766200-97781600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:97766200-97790000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:97766400-97775000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:97766400-97786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:97766600-97798400	Weak transcription	HSMMtube	muscle
27	chr7:97766800-97775000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:97766800-97777000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:97767200-97775400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:97767800-97781200	Weak transcription	A549	lung
31	chr7:97767800-97781400	Weak transcription	GM12878-XiMat	blood
32	chr7:97767800-97781400	Weak transcription	HMEC	breast
33	chr7:97768200-97780800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:97768200-97784200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:97768600-97776400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:97768600-97780800	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:97768800-97777000	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:97768800-97780800	Weak transcription	Right Ventricle	heart
39	chr7:97768800-97780800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:97768800-97807000	Weak transcription	Stomach Mucosa	stomach
41	chr7:97769000-97781000	Weak transcription	Fetal Brain Female	brain
42	chr7:97770400-97775000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:97770600-97775200	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr7:97770600-97775200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr7:97770800-97775400	Strong transcription	Liver	Liver
46	chr7:97771200-97781200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:97771600-97781000	Weak transcription	Brain Germinal Matrix	brain
48	chr7:97771800-97797800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr7:97772200-97778200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr7:97772200-97781600	Weak transcription	H9 Cell Line	embryonic stem cell

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