Variant report

Variant	rs61986978
Chromosome Location	chr14:68205537-68205538
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68204938..68207845-chr14:68208456..68210865,2	K562	blood:
2	chr14:68190643..68193563-chr14:68204307..68206104,2	K562	blood:
3	chr14:68190839..68193563-chr14:68203965..68206104,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1044126	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11158687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158688	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1117516	0.82[ASN][1000 genomes]
rs11622069	0.82[ASN][1000 genomes]
rs11629160	0.81[ASN][1000 genomes]
rs11849620	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12879105	0.88[EUR][1000 genomes]
rs17782775	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955468	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2295111	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2320027	0.81[ASN][1000 genomes]
rs55711201	0.82[ASN][1000 genomes]
rs55919049	0.82[ASN][1000 genomes]
rs56233923	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56385621	0.81[ASN][1000 genomes]
rs56412443	0.87[AMR][1000 genomes]
rs61991864	0.82[ASN][1000 genomes]
rs61991865	0.81[ASN][1000 genomes]
rs61991866	0.84[ASN][1000 genomes]
rs7149133	0.91[ASN][1000 genomes]
rs718212	0.83[EUR][1000 genomes]
rs742866	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs761512	0.84[EUR][1000 genomes]
rs8018479	0.81[EUR][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	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68189000-68218800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:68189800-68213400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:68196200-68219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:68196800-68214600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:68197200-68214800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:68200600-68205600	Weak transcription	Placenta	Placenta
7	chr14:68201400-68205600	Weak transcription	HSMM	muscle
8	chr14:68201400-68213400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:68201400-68213600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:68201400-68214600	Weak transcription	Brain Substantia Nigra	brain
11	chr14:68201600-68213200	Weak transcription	Brain Angular Gyrus	brain
12	chr14:68201600-68214600	Weak transcription	Spleen	Spleen
13	chr14:68202200-68205600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:68202200-68212800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr14:68202400-68212800	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:68202800-68205600	Weak transcription	Psoas Muscle	Psoas
17	chr14:68202800-68214000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr14:68202800-68215000	Weak transcription	Right Ventricle	heart
19	chr14:68202800-68230800	Weak transcription	Right Atrium	heart
20	chr14:68203000-68206000	Weak transcription	Adipose Nuclei	Adipose
21	chr14:68203000-68210400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:68203400-68205800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr14:68203800-68205600	Weak transcription	Colonic Mucosa	Colon
24	chr14:68203800-68205600	Weak transcription	Fetal Muscle Leg	muscle
25	chr14:68203800-68205600	Weak transcription	HSMMtube	muscle
26	chr14:68204000-68205600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr14:68204000-68219600	Weak transcription	Small Intestine	intestine
28	chr14:68204200-68205600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:68204400-68205600	Weak transcription	Pancreas	Pancrea
30	chr14:68204400-68214800	Weak transcription	Gastric	stomach
31	chr14:68204600-68205600	Weak transcription	Stomach Mucosa	stomach
32	chr14:68204800-68206000	Enhancers	Fetal Intestine Large	intestine
33	chr14:68205000-68205600	Weak transcription	Liver	Liver
34	chr14:68205000-68205800	Active TSS	A549	lung
35	chr14:68205200-68205600	Active TSS	HepG2	liver
36	chr14:68205400-68205800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:68205400-68205800	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr14:68205400-68206400	Enhancers	NHDF-Ad	bronchial

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