Variant report

Variant	rs61593957
Chromosome Location	chr1:61695157-61695158
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	chr1:61684478..61689814-chr1:61689911..61696022,10	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11806791	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1336184	1.00[ASN][1000 genomes]
rs17121798	0.84[EUR][1000 genomes]
rs17121833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121845	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17311684	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17377134	0.93[EUR][1000 genomes]
rs17377148	0.93[EUR][1000 genomes]
rs17377267	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17377274	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17377281	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55878063	0.87[EUR][1000 genomes]
rs59708846	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911905	1.00[ASN][1000 genomes]
rs72929847	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74086705	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74090327	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74090339	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74090351	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515011	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868110	0.93[EUR][1000 genomes]
rs9970076	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9970140	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849929	chr1:61684084-61714142	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61680000-61720200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:61682000-61706800	Weak transcription	Gastric	stomach
3	chr1:61690400-61696400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:61690600-61696400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:61690600-61699000	Weak transcription	Ovary	ovary
6	chr1:61692200-61696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:61692600-61696000	Weak transcription	A549	lung
8	chr1:61692600-61699400	Enhancers	HepG2	liver
9	chr1:61692600-61703400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:61692800-61696000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:61692800-61696000	Weak transcription	Stomach Mucosa	stomach
12	chr1:61692800-61696200	Weak transcription	Right Ventricle	heart
13	chr1:61692800-61696400	Weak transcription	Esophagus	oesophagus
14	chr1:61692800-61696400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:61692800-61706800	Weak transcription	Fetal Lung	lung
16	chr1:61692800-61707000	Weak transcription	Fetal Stomach	stomach
17	chr1:61692800-61707200	Weak transcription	Pancreas	Pancrea
18	chr1:61693000-61696000	Weak transcription	Fetal Heart	heart
19	chr1:61693000-61696200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:61693000-61704000	Weak transcription	Right Atrium	heart
21	chr1:61693000-61706800	Weak transcription	Brain Angular Gyrus	brain
22	chr1:61693000-61706800	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:61693200-61696000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:61693200-61696200	Weak transcription	Aorta	Aorta
25	chr1:61693200-61696200	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:61693200-61696200	Weak transcription	K562	blood
27	chr1:61693800-61696000	Weak transcription	Fetal Intestine Small	intestine
28	chr1:61693800-61698200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:61694000-61706800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:61694200-61696000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:61694200-61696000	Weak transcription	Brain Anterior Caudate	brain
32	chr1:61694200-61696000	Weak transcription	Brain Substantia Nigra	brain
33	chr1:61694200-61696200	Weak transcription	Fetal Brain Female	brain
34	chr1:61694200-61696200	Weak transcription	Left Ventricle	heart
35	chr1:61694200-61696400	Weak transcription	Psoas Muscle	Psoas
36	chr1:61694200-61698600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:61694200-61699200	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:61694200-61700200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:61694200-61700200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:61694200-61703200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:61694200-61703200	Weak transcription	HMEC	breast
42	chr1:61694200-61703400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:61694200-61703600	Weak transcription	Brain Germinal Matrix	brain
44	chr1:61694200-61706800	Weak transcription	Adipose Nuclei	Adipose
45	chr1:61694200-61707000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:61694400-61703600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:61694800-61696800	Enhancers	Liver	Liver

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