Variant report

Variant	rs17782775
Chromosome Location	chr14:68204433-68204434
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	chr14:68190643..68193563-chr14:68204307..68206104,2	K562	blood:
2	chr14:68190839..68193563-chr14:68203965..68206104,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1044126	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11158687	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158688	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1117516	0.83[YRI][hapmap];0.82[ASN][1000 genomes]
rs11622069	0.82[ASN][1000 genomes]
rs11629160	0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs11849521	0.83[YRI][hapmap]
rs11849620	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12879105	0.88[EUR][1000 genomes]
rs17782603	0.83[YRI][hapmap]
rs1955468	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2295111	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2320027	0.81[ASN][1000 genomes]
rs3759763	0.83[YRI][hapmap]
rs55711201	0.82[ASN][1000 genomes]
rs55919049	0.82[ASN][1000 genomes]
rs56233923	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56385621	0.81[ASN][1000 genomes]
rs56412443	0.88[AMR][1000 genomes]
rs61986978	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61991864	0.82[ASN][1000 genomes]
rs61991865	0.81[ASN][1000 genomes]
rs61991866	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7149133	0.87[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs718212	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs742866	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs761512	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs8018479	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	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:35 , 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	chr14:68202000-68204600	Enhancers	Stomach Mucosa	stomach
14	chr14:68202200-68205600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:68202200-68212800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr14:68202400-68212800	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:68202800-68205600	Weak transcription	Psoas Muscle	Psoas
18	chr14:68202800-68214000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr14:68202800-68215000	Weak transcription	Right Ventricle	heart
20	chr14:68202800-68230800	Weak transcription	Right Atrium	heart
21	chr14:68203000-68206000	Weak transcription	Adipose Nuclei	Adipose
22	chr14:68203000-68210400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:68203200-68205200	Enhancers	HepG2	liver
24	chr14:68203400-68205800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr14:68203800-68205600	Weak transcription	Colonic Mucosa	Colon
26	chr14:68203800-68205600	Weak transcription	Fetal Muscle Leg	muscle
27	chr14:68203800-68205600	Weak transcription	HSMMtube	muscle
28	chr14:68204000-68204800	Weak transcription	Fetal Intestine Large	intestine
29	chr14:68204000-68205600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:68204000-68219600	Weak transcription	Small Intestine	intestine
31	chr14:68204200-68205600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr14:68204400-68204600	ZNF genes & repeats	Liver	Liver
33	chr14:68204400-68204600	Enhancers	A549	lung
34	chr14:68204400-68205600	Weak transcription	Pancreas	Pancrea
35	chr14:68204400-68214800	Weak transcription	Gastric	stomach

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