Variant report

Variant	rs3088206
Chromosome Location	chr14:71956309-71956310
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71956124..71958303-chr14:72214679..72216703,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIPA1L1-2	chr14:71954578-71956420	NONHSAT037641

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10129301	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10130652	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10143346	0.84[ASN][1000 genomes]
rs11627930	0.81[ASN][1000 genomes]
rs12878009	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12897119	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12897977	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs193440	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs193441	0.80[EUR][1000 genomes]
rs2041330	0.84[EUR][1000 genomes]
rs2108048	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36528	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36532	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36535	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41217	0.80[ASN][1000 genomes]
rs41218	0.87[EUR][1000 genomes]
rs41219	0.82[EUR][1000 genomes]
rs41225	0.83[EUR][1000 genomes]
rs41227	0.81[EUR][1000 genomes]
rs41229	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4464023	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4899396	0.83[EUR][1000 genomes]
rs7153726	0.87[EUR][1000 genomes]
rs7154208	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8007271	0.82[EUR][1000 genomes]
rs8007521	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8023058	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs917391	0.86[EUR][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	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71929200-71964200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr14:71935400-71980400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:71939000-71959800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:71942000-71964200	Weak transcription	Hela-S3	cervix
5	chr14:71945800-71956400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:71946000-71959800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:71946000-71963200	Weak transcription	Dnd41	blood
8	chr14:71946000-71995600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr14:71947000-71964600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:71948200-71958600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:71949200-71958600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:71950400-71958800	Weak transcription	Fetal Kidney	kidney
13	chr14:71950600-71958000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:71950800-71958200	Weak transcription	Ovary	ovary
15	chr14:71950800-71958600	Weak transcription	Lung	lung
16	chr14:71952200-71962600	Weak transcription	Primary B cells from cord blood	blood
17	chr14:71953800-71956800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:71954000-71956800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr14:71954200-71956800	Enhancers	Brain Substantia Nigra	brain
20	chr14:71954200-71959800	Weak transcription	Right Atrium	heart
21	chr14:71954400-71957200	Enhancers	NHDF-Ad	bronchial
22	chr14:71954400-71958600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr14:71954400-71960400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr14:71954400-71978200	Weak transcription	Primary T cells from cord blood	blood
25	chr14:71954800-71956800	Enhancers	Fetal Intestine Small	intestine
26	chr14:71954800-71958200	Weak transcription	Spleen	Spleen
27	chr14:71954800-71964200	Weak transcription	NHEK	skin
28	chr14:71955000-71958600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:71955000-71964000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:71955400-71956600	Enhancers	Fetal Intestine Large	intestine
31	chr14:71955400-71957600	Weak transcription	GM12878-XiMat	blood
32	chr14:71955400-71958200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr14:71955400-71958400	Weak transcription	Fetal Brain Male	brain
34	chr14:71955600-71956400	Enhancers	HepG2	liver
35	chr14:71955800-71956400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:71955800-71956400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr14:71956000-71957800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr14:71956000-71958000	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:71956000-71958000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr14:71956000-71958600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:71956000-71958600	Weak transcription	Fetal Muscle Leg	muscle
42	chr14:71956000-71961400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:71956000-71971200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:71956000-71979800	Weak transcription	Aorta	Aorta
45	chr14:71956200-71957200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr14:71956200-71958000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:71956200-71958000	Weak transcription	Brain Angular Gyrus	brain
48	chr14:71956200-71958000	Weak transcription	Brain Anterior Caudate	brain
49	chr14:71956200-71958000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr14:71956200-71958000	Weak transcription	Brain Hippocampus Middle	brain

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