Variant report

Variant	rs6461600
Chromosome Location	chr7:2816537-2816538
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2810442..2813051-chr7:2815246..2817707,2	K562	blood:
2	chr7:2810431..2812589-chr7:2814723..2817684,2	K562	blood:
3	chr7:2815376..2818308-chr7:2821717..2825874,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11761804	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11764225	0.83[EUR][1000 genomes]
rs11765726	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11769532	0.86[AMR][1000 genomes]
rs11971014	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17132594	0.81[EUR][1000 genomes]
rs17132624	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17132636	1.00[ASN][1000 genomes]
rs17132643	1.00[ASN][1000 genomes]
rs17132663	1.00[ASN][1000 genomes]
rs17132665	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17132741	0.82[AMR][1000 genomes]
rs17300022	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35341157	1.00[ASN][1000 genomes]
rs36113116	1.00[ASN][1000 genomes]
rs55726557	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55767077	0.83[EUR][1000 genomes]
rs55832916	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56007918	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56208415	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56356906	0.83[EUR][1000 genomes]
rs6945135	0.87[AMR][1000 genomes]
rs6962049	1.00[ASN][1000 genomes]
rs6964740	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6967664	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73047387	0.83[EUR][1000 genomes]
rs73047393	0.83[EUR][1000 genomes]
rs73049305	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73049327	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73049331	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73049341	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73049362	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73049380	0.86[AMR][1000 genomes]
rs73051415	0.83[AMR][1000 genomes]
rs757788	0.86[AMR][1000 genomes]
rs7803944	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7804264	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7811164	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9770108	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1024023	chr7:2726210-2829581	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538653	chr7:2726210-2829581	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1032282	chr7:2789555-2820774	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv2761071	chr7:2811338-2822933	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2789200-2831600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:2790000-2830400	Weak transcription	Aorta	Aorta
3	chr7:2797600-2831200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:2798000-2827400	Weak transcription	Thymus	Thymus
5	chr7:2799200-2817000	Weak transcription	Dnd41	blood
6	chr7:2799200-2827200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:2799600-2825600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:2800800-2817200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:2800800-2818200	Weak transcription	Hela-S3	cervix
10	chr7:2801000-2827600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr7:2801000-2829600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:2801000-2831600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:2801000-2831600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:2802000-2817200	Weak transcription	HSMMtube	muscle
15	chr7:2802600-2826400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:2803200-2822600	Weak transcription	Right Ventricle	heart
17	chr7:2803400-2818000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:2803400-2818000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:2803400-2833400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:2803600-2820800	Weak transcription	Fetal Heart	heart
21	chr7:2803600-2822200	Weak transcription	HUVEC	blood vessel
22	chr7:2803600-2822600	Weak transcription	Left Ventricle	heart
23	chr7:2803600-2824200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:2803600-2826800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr7:2803800-2818200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:2803800-2821000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:2803800-2823800	Weak transcription	NH-A	brain
28	chr7:2803800-2824200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:2804400-2821200	Weak transcription	NHDF-Ad	bronchial
30	chr7:2804600-2818000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:2807800-2827000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:2808200-2817000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:2808800-2816600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:2810600-2842600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:2810800-2840800	Weak transcription	Stomach Mucosa	stomach
36	chr7:2811400-2824800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:2811600-2819800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:2811600-2824200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:2811800-2817800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:2811800-2820000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr7:2812400-2818200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:2812600-2818200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:2812600-2831400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr7:2812800-2817600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr7:2813200-2817800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:2813400-2817400	Strong transcription	Fetal Stomach	stomach
47	chr7:2813600-2816800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:2813600-2816800	Enhancers	Colon Smooth Muscle	Colon
49	chr7:2813600-2817000	Weak transcription	Primary B cells from cord blood	blood
50	chr7:2813600-2821800	Weak transcription	GM12878-XiMat	blood

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