Variant report

Variant	rs6683359
Chromosome Location	chr1:172514833-172514834
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:172418415..172420510-chr1:172512640..172515334,3	MCF-7	breast:
2	chr1:172507927..172510625-chr1:172514126..172515983,2	MCF-7	breast:
3	chr1:172511128..172513343-chr1:172514678..172516974,2	K562	blood:
4	chr1:172507308..172509751-chr1:172512083..172515617,3	K562	blood:
5	chr1:172410788..172413097-chr1:172513228..172515529,2	K562	blood:
6	chr1:172511443..172515146-chr1:172549683..172552996,3	K562	blood:
7	chr1:172410788..172413280-chr1:172514029..172516272,2	K562	blood:
8	chr1:172502047..172504329-chr1:172512042..172515759,3	MCF-7	breast:
9	chr1:172513266..172515531-chr1:172525208..172528046,2	K562	blood:
10	chr1:172504989..172507379-chr1:172513184..172515018,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135845	Chromatin interaction
ENSG00000094975	Chromatin interaction
ENSG00000180999	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs2472551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2516063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55678532	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56001419	1.00[EUR][1000 genomes]
rs56884575	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57117081	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57600271	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58097538	1.00[EUR][1000 genomes]
rs58481917	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58852323	1.00[EUR][1000 genomes]
rs58899638	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60296720	1.00[EUR][1000 genomes]
rs60345777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60485575	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61692965	1.00[EUR][1000 genomes]
rs73032190	1.00[EUR][1000 genomes]
rs73034011	1.00[EUR][1000 genomes]
rs74124226	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124228	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124239	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124241	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124242	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124244	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124245	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7526530	1.00[EUR][1000 genomes]
rs7538218	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872547	chr1:172511969-172545832	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172503400-172528600	Weak transcription	Aorta	Aorta
2	chr1:172503400-172528600	Weak transcription	Lung	lung
3	chr1:172503600-172520200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:172503600-172531600	Weak transcription	Esophagus	oesophagus
5	chr1:172503800-172529000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:172503800-172534200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:172504000-172524400	Weak transcription	HSMM	muscle
8	chr1:172504200-172515200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:172504200-172527000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:172504400-172519400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr1:172504800-172516200	Weak transcription	HUVEC	blood vessel
12	chr1:172505200-172518800	Weak transcription	Brain Angular Gyrus	brain
13	chr1:172505800-172519600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr1:172506000-172519000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:172506000-172532600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:172506200-172525000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:172506200-172526200	Weak transcription	Fetal Intestine Large	intestine
18	chr1:172506200-172528400	Weak transcription	Fetal Stomach	stomach
19	chr1:172507000-172516000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:172507200-172516800	Weak transcription	Brain Germinal Matrix	brain
21	chr1:172507200-172518400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:172507400-172515000	Weak transcription	Right Atrium	heart
23	chr1:172507400-172516400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:172507400-172517600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:172507400-172518400	Weak transcription	NHEK	skin
26	chr1:172507400-172523000	Weak transcription	NHDF-Ad	bronchial
27	chr1:172507400-172526400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:172507400-172528600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:172508000-172517400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:172508200-172519200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:172508200-172526400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:172508800-172515200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr1:172509200-172515600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr1:172509400-172530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:172510000-172516200	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:172510000-172518200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:172510000-172524000	Weak transcription	Dnd41	blood
38	chr1:172510000-172525000	Weak transcription	Left Ventricle	heart
39	chr1:172511200-172516200	Weak transcription	A549	lung
40	chr1:172511800-172515000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:172511800-172515000	Weak transcription	Pancreas	Pancrea
42	chr1:172511800-172515000	Weak transcription	Spleen	Spleen
43	chr1:172511800-172515200	Enhancers	Primary T cells from cord blood	blood
44	chr1:172511800-172524800	Weak transcription	Liver	Liver
45	chr1:172511800-172528600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:172511800-172557800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:172512000-172516200	Weak transcription	Fetal Lung	lung
48	chr1:172512000-172518400	Weak transcription	Brain Substantia Nigra	brain
49	chr1:172512000-172523400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:172512000-172529000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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