Variant report

Variant	rs28616246
Chromosome Location	chr7:103820138-103820139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103814625..103817852-chr7:103818209..103821544,4	K562	blood:
2	chr7:103811783..103814415-chr7:103819771..103821551,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10487186	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10487187	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17133243	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17159460	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17159497	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17159520	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17159629	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17159657	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17159689	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17159701	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17159713	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17159723	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17159768	0.91[AFR][1000 genomes]
rs17159771	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17160197	0.83[AMR][1000 genomes]
rs1861448	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3079580	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56821345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58837307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60431768	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60849630	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6946744	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6950326	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6951205	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7458812	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7781808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7805361	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7805635	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7807929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs872861	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv526062	chr7:103817597-103891085	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv608065	chr7:103817597-103990755	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 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	chr7:103764000-103829800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:103764400-103820200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr7:103765600-103840200	Weak transcription	Small Intestine	intestine
4	chr7:103766200-103823600	Weak transcription	Esophagus	oesophagus
5	chr7:103766200-103838400	Weak transcription	Spleen	Spleen
6	chr7:103766400-103822600	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:103767200-103829200	Weak transcription	Gastric	stomach
8	chr7:103767200-103843600	Weak transcription	Right Ventricle	heart
9	chr7:103767600-103820200	Weak transcription	Brain Germinal Matrix	brain
10	chr7:103769200-103822600	Weak transcription	Fetal Kidney	kidney
11	chr7:103773200-103822800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:103775200-103829200	Weak transcription	Lung	lung
13	chr7:103776800-103820200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:103776800-103822800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:103781600-103822800	Weak transcription	HSMMtube	muscle
16	chr7:103781800-103822400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:103791200-103822800	Weak transcription	Brain Anterior Caudate	brain
18	chr7:103796400-103843600	Weak transcription	Fetal Brain Male	brain
19	chr7:103797200-103847000	Weak transcription	Fetal Heart	heart
20	chr7:103797400-103822600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:103798400-103829600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:103800000-103822200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:103800800-103829600	Weak transcription	NHLF	lung
24	chr7:103802200-103838600	Weak transcription	Psoas Muscle	Psoas
25	chr7:103802400-103822600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:103804200-103823000	Weak transcription	Thymus	Thymus
27	chr7:103804200-103824800	Weak transcription	Pancreas	Pancrea
28	chr7:103804800-103820200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:103805000-103821800	Weak transcription	Fetal Stomach	stomach
30	chr7:103805000-103822600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:103805600-103820400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr7:103805600-103820400	Weak transcription	Fetal Intestine Large	intestine
33	chr7:103806000-103820200	Weak transcription	HMEC	breast
34	chr7:103806400-103820200	Weak transcription	Left Ventricle	heart
35	chr7:103808000-103820200	Weak transcription	NH-A	brain
36	chr7:103808000-103822600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:103808200-103820400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:103809000-103822200	Weak transcription	Placenta	Placenta
39	chr7:103809400-103838200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr7:103809600-103821800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:103811400-103820400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr7:103812000-103821800	Weak transcription	NHDF-Ad	bronchial
43	chr7:103812800-103822200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:103815200-103821800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:103815200-103823200	Weak transcription	Brain Angular Gyrus	brain
46	chr7:103815200-103823200	Weak transcription	Ovary	ovary
47	chr7:103815400-103820200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:103815400-103839200	Weak transcription	Colonic Mucosa	Colon
49	chr7:103815600-103820200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:103815600-103829200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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