Variant report

Variant	rs1955467
Chromosome Location	chr14:68206011-68206012
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: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10129402	1.00[AMR][1000 genomes]
rs10148493	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148929	1.00[AMR][1000 genomes]
rs10150303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11625247	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12435419	1.00[AMR][1000 genomes]
rs12882546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12894770	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1474796	0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1535088	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1955471	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2092691	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2320028	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4899223	0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902505	0.96[AFR][1000 genomes]
rs4902513	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902515	0.81[AFR][1000 genomes]
rs6573798	1.00[AMR][1000 genomes]
rs7143260	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7147365	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7147404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7157923	0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7159735	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8006137	1.00[AMR][1000 genomes]
rs8011138	0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8017085	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8017290	0.81[AFR][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:56 , 50 per page) page: 1 2

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	chr14:68201400-68213400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:68201400-68213600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:68201400-68214600	Weak transcription	Brain Substantia Nigra	brain
9	chr14:68201600-68213200	Weak transcription	Brain Angular Gyrus	brain
10	chr14:68201600-68214600	Weak transcription	Spleen	Spleen
11	chr14:68202200-68212800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr14:68202400-68212800	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:68202800-68214000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:68202800-68215000	Weak transcription	Right Ventricle	heart
15	chr14:68202800-68230800	Weak transcription	Right Atrium	heart
16	chr14:68203000-68210400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:68204000-68219600	Weak transcription	Small Intestine	intestine
18	chr14:68204400-68214800	Weak transcription	Gastric	stomach
19	chr14:68205400-68206400	Enhancers	NHDF-Ad	bronchial
20	chr14:68205600-68206200	Enhancers	Pancreas	Pancrea
21	chr14:68205600-68206200	Flanking Active TSS	HepG2	liver
22	chr14:68205600-68206200	Enhancers	K562	blood
23	chr14:68205600-68206400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:68205600-68206400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr14:68205600-68206400	Enhancers	HMEC	breast
26	chr14:68205600-68206400	Enhancers	HSMM	muscle
27	chr14:68205600-68206600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:68205600-68206600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr14:68205600-68206600	Enhancers	Fetal Intestine Small	intestine
30	chr14:68205600-68206600	Enhancers	Osteobl	bone
31	chr14:68205800-68206200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr14:68205800-68206400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:68205800-68206400	Enhancers	NHEK	skin
34	chr14:68205800-68206600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:68205800-68206600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:68205800-68206800	Enhancers	Hela-S3	cervix
37	chr14:68205800-68213600	Weak transcription	Placenta	Placenta
38	chr14:68206000-68206200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:68206000-68206200	Enhancers	Adipose Nuclei	Adipose
40	chr14:68206000-68206200	Active TSS	A549	lung
41	chr14:68206000-68206800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr14:68206000-68206800	Enhancers	Stomach Mucosa	stomach
43	chr14:68206000-68210400	Weak transcription	Psoas Muscle	Psoas
44	chr14:68206000-68212800	Weak transcription	Fetal Intestine Large	intestine
45	chr14:68206000-68213600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:68206000-68213800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:68206000-68213800	Weak transcription	Liver	Liver
48	chr14:68206000-68214000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr14:68206000-68214600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:68206000-68214800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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