Variant report

Variant	rs56695578
Chromosome Location	chr1:93130680-93130681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10158801	0.82[EUR][1000 genomes]
rs10159031	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10465755	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10465757	1.00[EUR][1000 genomes]
rs12564537	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12564911	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12565227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565259	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12565764	0.87[ASN][1000 genomes]
rs17131655	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2151575	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28550182	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41286813	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4442373	0.89[EUR][1000 genomes]
rs55995837	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56185219	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56764656	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59552478	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59925050	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60842823	0.89[EUR][1000 genomes]
rs60855457	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61259042	0.89[EUR][1000 genomes]
rs61288876	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6699723	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101199	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs74101310	0.89[EUR][1000 genomes]
rs74101322	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101354	0.89[EUR][1000 genomes]
rs74101356	0.89[EUR][1000 genomes]
rs74101362	0.89[EUR][1000 genomes]
rs74101363	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74102921	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs74102923	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7535171	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7548287	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs969698	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9803725	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830603	chr1:93003657-93172206	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1794348	chr1:93090476-93192932	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1802611	chr1:93090476-93219907	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93053600-93166200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:93098400-93205400	Weak transcription	NHLF	lung
3	chr1:93101600-93163600	Weak transcription	Colonic Mucosa	Colon
4	chr1:93102000-93157600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:93119600-93130800	Weak transcription	Brain Substantia Nigra	brain
6	chr1:93120000-93171400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:93121200-93157400	Weak transcription	HUVEC	blood vessel
8	chr1:93121400-93131600	Weak transcription	Osteobl	bone
9	chr1:93121400-93159000	Weak transcription	NH-A	brain
10	chr1:93121400-93162200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:93121600-93130800	Strong transcription	Liver	Liver
12	chr1:93121600-93166000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:93122000-93145200	Weak transcription	HMEC	breast
14	chr1:93122000-93154800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:93122000-93163200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:93122200-93148200	Weak transcription	Fetal Heart	heart
17	chr1:93122600-93149200	Weak transcription	A549	lung
18	chr1:93122800-93169400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:93123000-93158600	Weak transcription	HSMMtube	muscle
20	chr1:93123200-93147400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:93123200-93157800	Weak transcription	Brain Anterior Caudate	brain
22	chr1:93123400-93176200	Weak transcription	Psoas Muscle	Psoas
23	chr1:93123600-93131000	Weak transcription	Primary B cells from cord blood	blood
24	chr1:93123600-93131600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:93123600-93131800	Weak transcription	Lung	lung
26	chr1:93123600-93131800	Weak transcription	Pancreas	Pancrea
27	chr1:93123600-93137800	Weak transcription	Fetal Lung	lung
28	chr1:93123600-93139600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:93123600-93140000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:93123600-93140000	Weak transcription	Fetal Stomach	stomach
31	chr1:93123600-93140400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:93123600-93140400	Weak transcription	Adipose Nuclei	Adipose
33	chr1:93123600-93140600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:93123600-93145200	Weak transcription	Spleen	Spleen
35	chr1:93123600-93145200	Weak transcription	NHEK	skin
36	chr1:93123600-93147200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr1:93123600-93147600	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:93123600-93147800	Weak transcription	K562	blood
39	chr1:93123600-93153800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:93123600-93154200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:93123600-93155400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:93123600-93155400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:93123600-93155600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:93123600-93158600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:93123600-93160200	Weak transcription	Brain Angular Gyrus	brain
46	chr1:93123600-93160800	Weak transcription	Fetal Brain Male	brain
47	chr1:93123600-93161400	Weak transcription	Esophagus	oesophagus
48	chr1:93123600-93162200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:93123600-93162600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:93123600-93166800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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