Variant report

Variant	rs6694482
Chromosome Location	chr1:149933941-149933942
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149932228..149936162-chr1:150020648..150023324,4	MCF-7	breast:
2	chr1:149931947..149934324-chr1:150036027..150039884,4	MCF-7	breast:
3	chr1:149869640..149872299-chr1:149933164..149935897,3	MCF-7	breast:
4	chr1:149933703..149935024-chr1:150137435..150138842,5	K562	blood:
5	chr1:149856706..149863317-chr1:149930609..149936203,18	K562	blood:
6	chr1:149931408..149935324-chr1:150013770..150016857,4	K562	blood:
7	chr1:149932187..149934203-chr1:149937338..149939359,2	MCF-7	breast:
8	chr1:149933674..149935222-chr1:150022197..150023225,15	MCF-7	breast:
9	chr1:149932730..149935690-chr1:149972916..149975575,2	K562	blood:
10	chr1:149857115..149861650-chr1:149931288..149935983,8	K562	blood:
11	chr1:149906839..149912416-chr1:149930712..149937411,6	K562	blood:
12	chr1:149855178..149861916-chr1:149928782..149939792,19	MCF-7	breast:
13	chr1:149905745..149907622-chr1:149932983..149934904,2	MCF-7	breast:
14	chr1:149932753..149934505-chr1:150038953..150040791,2	K562	blood:
15	chr1:149931984..149934736-chr1:150037948..150040908,4	MCF-7	breast:
16	chr1:149930117..149931822-chr1:149933586..149935763,2	K562	blood:
17	chr1:149933269..149934631-chr1:150022302..150023872,9	MCF-7	breast:
18	chr1:149932118..149934752-chr1:150134804..150137621,2	K562	blood:
19	chr1:149933676..149934376-chr1:150022343..150023190,2	K562	blood:
20	chr1:149859731..149860586-chr1:149933757..149934651,2	MCF-7	breast:
21	chr1:149857663..149860473-chr1:149932111..149935719,6	MCF-7	breast:
22	chr1:149933913..149934607-chr1:149982356..149982988,2	MCF-7	breast:
23	chr1:149913519..149915575-chr1:149932822..149935267,2	MCF-7	breast:
24	chr1:149899949..149901811-chr1:149931355..149934689,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163113	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000143368	Chromatin interaction
ENSG00000014914	Chromatin interaction
ENSG00000178096	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs12059874	1.00[MEX][hapmap]
rs1556934	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs15916	0.83[AMR][1000 genomes]
rs16832989	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832993	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833048	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16836857	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16837054	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs16837367	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16837593	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16838449	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16838646	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841141	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841623	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841697	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];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]
rs6700399	0.91[YRI][hapmap];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]
rs73008201	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[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];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:120 , 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	chr1:149910000-149934200	Weak transcription	Primary T cells from cord blood	blood
3	chr1:149912600-149941600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:149914400-149937400	Weak transcription	Fetal Heart	heart
5	chr1:149915000-149937600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:149921200-149942600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:149922200-149935800	Weak transcription	Pancreas	Pancrea
8	chr1:149922200-149936000	Weak transcription	Thymus	Thymus
9	chr1:149922200-149937400	Weak transcription	Colonic Mucosa	Colon
10	chr1:149922200-149937600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:149922400-149934400	Weak transcription	Psoas Muscle	Psoas
12	chr1:149922400-149951600	Weak transcription	Small Intestine	intestine
13	chr1:149927400-149934000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:149928200-149934400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:149928400-149934200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:149928400-149934200	Strong transcription	Adipose Nuclei	Adipose
17	chr1:149929000-149934200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:149929400-149934200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:149929400-149940000	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:149929400-149948400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr1:149929600-149940200	Strong transcription	HUVEC	blood vessel
22	chr1:149929600-149950200	Strong transcription	Osteobl	bone
23	chr1:149929800-149936000	Strong transcription	NH-A	brain
24	chr1:149930000-149935200	Strong transcription	Hela-S3	cervix
25	chr1:149930000-149940000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:149930200-149934600	Strong transcription	Fetal Lung	lung
27	chr1:149930200-149935800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:149930200-149935800	Weak transcription	Esophagus	oesophagus
29	chr1:149930200-149936000	Weak transcription	Aorta	Aorta
30	chr1:149930200-149936000	Weak transcription	Gastric	stomach
31	chr1:149930200-149936000	Strong transcription	K562	blood
32	chr1:149930200-149937400	Weak transcription	Spleen	Spleen
33	chr1:149930400-149934200	Weak transcription	Fetal Thymus	thymus
34	chr1:149930400-149935800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:149930400-149943600	Strong transcription	Fetal Stomach	stomach
36	chr1:149930600-149939800	Strong transcription	NHDF-Ad	bronchial
37	chr1:149930800-149959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:149931400-149936400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:149931800-149934000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:149931800-149934200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:149931800-149934200	Weak transcription	Brain Angular Gyrus	brain
42	chr1:149931800-149934200	Weak transcription	Colon Smooth Muscle	Colon
43	chr1:149931800-149935200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:149931800-149935800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr1:149931800-149936000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:149931800-149936000	Weak transcription	Lung	lung
47	chr1:149931800-149937400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:149931800-149946200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:149931800-149949600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:149931800-149949800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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