Variant report

Variant	rs73008201
Chromosome Location	chr1:149935159-149935160
allele	C/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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149932228..149936162-chr1:150020648..150023324,4	MCF-7	breast:
2	chr1:149869640..149872299-chr1:149933164..149935897,3	MCF-7	breast:
3	chr1:149897584..149899602-chr1:149934743..149936708,2	MCF-7	breast:
4	chr1:149856706..149863317-chr1:149930609..149936203,18	K562	blood:
5	chr1:149931408..149935324-chr1:150013770..150016857,4	K562	blood:
6	chr1:149933674..149935222-chr1:150022197..150023225,15	MCF-7	breast:
7	chr1:149932730..149935690-chr1:149972916..149975575,2	K562	blood:
8	chr1:149857115..149861650-chr1:149931288..149935983,8	K562	blood:
9	chr1:149906839..149912416-chr1:149930712..149937411,6	K562	blood:
10	chr1:149855178..149861916-chr1:149928782..149939792,19	MCF-7	breast:
11	chr1:149934510..149937424-chr1:149942259..149944443,2	K562	blood:
12	chr1:149930117..149931822-chr1:149933586..149935763,2	K562	blood:
13	chr1:149857663..149860473-chr1:149932111..149935719,6	MCF-7	breast:
14	chr1:149913519..149915575-chr1:149932822..149935267,2	MCF-7	breast:
15	chr1:149934041..149935815-chr1:150139481..150141616,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184260	Chromatin interaction
ENSG00000014914	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000143368	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1556934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs15916	0.83[AMR][1000 genomes]
rs16832989	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832993	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16836857	1.00[AMR][1000 genomes]
rs16837054	1.00[AMR][1000 genomes]
rs16837367	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16837593	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16838449	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16838646	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56929499	1.00[AMR][1000 genomes]
rs57020352	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57182882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57513077	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58100431	1.00[AMR][1000 genomes]
rs58137104	0.83[AMR][1000 genomes]
rs58688107	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58777569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59462540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59709800	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59934949	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60631776	1.00[AMR][1000 genomes]
rs6664973	1.00[AMR][1000 genomes]
rs6680574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6694482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6700399	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73004328	1.00[AMR][1000 genomes]
rs73004398	1.00[AMR][1000 genomes]
rs73004400	1.00[AMR][1000 genomes]
rs73006303	1.00[AMR][1000 genomes]
rs73006306	1.00[AMR][1000 genomes]
rs73006313	1.00[AMR][1000 genomes]
rs73006316	1.00[AMR][1000 genomes]
rs73006318	1.00[AMR][1000 genomes]
rs73006327	1.00[AMR][1000 genomes]
rs73006333	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008163	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008167	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008171	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011904	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011906	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011909	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011910	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011912	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011913	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011915	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011930	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73016112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7523560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7543861	1.00[AFR][1000 genomes];1.00[AMR][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	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 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	chr1:149909400-149947000	Weak transcription	Fetal Brain Male	brain
2	chr1:149912600-149941600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:149914400-149937400	Weak transcription	Fetal Heart	heart
4	chr1:149915000-149937600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:149921200-149942600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:149922200-149935800	Weak transcription	Pancreas	Pancrea
7	chr1:149922200-149936000	Weak transcription	Thymus	Thymus
8	chr1:149922200-149937400	Weak transcription	Colonic Mucosa	Colon
9	chr1:149922200-149937600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:149922400-149951600	Weak transcription	Small Intestine	intestine
11	chr1:149929400-149940000	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:149929400-149948400	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr1:149929600-149940200	Strong transcription	HUVEC	blood vessel
14	chr1:149929600-149950200	Strong transcription	Osteobl	bone
15	chr1:149929800-149936000	Strong transcription	NH-A	brain
16	chr1:149930000-149935200	Strong transcription	Hela-S3	cervix
17	chr1:149930000-149940000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr1:149930200-149935800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:149930200-149935800	Weak transcription	Esophagus	oesophagus
20	chr1:149930200-149936000	Weak transcription	Aorta	Aorta
21	chr1:149930200-149936000	Weak transcription	Gastric	stomach
22	chr1:149930200-149936000	Strong transcription	K562	blood
23	chr1:149930200-149937400	Weak transcription	Spleen	Spleen
24	chr1:149930400-149935800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:149930400-149943600	Strong transcription	Fetal Stomach	stomach
26	chr1:149930600-149939800	Strong transcription	NHDF-Ad	bronchial
27	chr1:149930800-149959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:149931400-149936400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:149931800-149935200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:149931800-149935800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:149931800-149936000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:149931800-149936000	Weak transcription	Lung	lung
33	chr1:149931800-149937400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:149931800-149946200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:149931800-149949600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:149931800-149949800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:149932000-149935800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:149932000-149935800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:149932000-149935800	Weak transcription	Right Ventricle	heart
40	chr1:149932000-149936000	Weak transcription	NHEK	skin
41	chr1:149932000-149936400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:149932000-149937400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:149932000-149949200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:149932000-149949600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:149932200-149935600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:149932200-149935800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr1:149932200-149935800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:149932200-149935800	Weak transcription	Left Ventricle	heart
49	chr1:149932200-149936000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:149932200-149936600	Weak transcription	NHLF	lung

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