Variant report

Variant	rs2065014
Chromosome Location	chr14:103904411-103904412
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103902234..103904874-chr14:103907448..103909098,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10137098	1.00[EUR][1000 genomes]
rs10146340	1.00[AMR][1000 genomes]
rs10149270	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10151139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11621406	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11625988	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12887238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1951393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2065020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2145858	0.98[AFR][1000 genomes]
rs2180992	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2403175	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2403181	0.96[AFR][1000 genomes]
rs2756123	0.83[AFR][1000 genomes]
rs2756125	0.81[AFR][1000 genomes]
rs2756130	0.94[AFR][1000 genomes]
rs2756131	0.94[AFR][1000 genomes]
rs2756133	0.81[AFR][1000 genomes]
rs2756137	0.94[AFR][1000 genomes]
rs2765047	0.81[AFR][1000 genomes]
rs2765048	0.81[AFR][1000 genomes]
rs2765050	0.92[AFR][1000 genomes]
rs2765053	0.94[AFR][1000 genomes]
rs34721082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4900576	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4906326	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4906328	1.00[AFR][1000 genomes]
rs62007720	0.89[AFR][1000 genomes]
rs6575987	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6575989	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6575990	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6575993	1.00[AFR][1000 genomes]
rs7146717	0.94[AFR][1000 genomes]
rs7149291	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7152150	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7153380	0.96[AFR][1000 genomes]
rs7156000	0.88[AFR][1000 genomes]
rs8003497	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014010	0.98[AFR][1000 genomes]
rs911556	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS 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	162 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
2	chr14:103879000-103914200	Weak transcription	Esophagus	oesophagus
3	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:103880400-103904600	Weak transcription	Fetal Kidney	kidney
5	chr14:103889400-103917800	Weak transcription	Gastric	stomach
6	chr14:103890000-103922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:103890200-103905600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:103890200-103914200	Weak transcription	Lung	lung
9	chr14:103893000-103904600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:103893200-103905600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:103894400-103911400	Weak transcription	Pancreas	Pancrea
12	chr14:103894400-103911600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:103894600-103904800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:103894600-103908200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:103894600-103911400	Weak transcription	Brain Angular Gyrus	brain
16	chr14:103894600-103911600	Weak transcription	Fetal Brain Female	brain
17	chr14:103894600-103922400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:103894600-103927400	Weak transcription	Hela-S3	cervix
19	chr14:103895400-103905400	Weak transcription	Fetal Lung	lung
20	chr14:103895600-103905000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:103895600-103905000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:103895600-103911400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:103895800-103911200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr14:103895800-103911200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:103895800-103917800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:103896000-103906000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:103896000-103909800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr14:103896000-103911200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:103896000-103911400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:103896000-103911400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:103896000-103911400	Weak transcription	Ovary	ovary
32	chr14:103896000-103916600	Weak transcription	Small Intestine	intestine
33	chr14:103896000-103922400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:103896000-103922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:103896200-103909800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:103896200-103911400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr14:103896400-103917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:103897400-103911200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr14:103899200-103934400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr14:103899400-103911400	Weak transcription	Brain Anterior Caudate	brain
41	chr14:103900800-103918600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr14:103901000-103904600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr14:103901000-103904800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr14:103901000-103905400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:103901000-103906200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:103901000-103908800	Weak transcription	HSMMtube	muscle
47	chr14:103901000-103911400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:103901000-103914400	Weak transcription	Spleen	Spleen
49	chr14:103901000-103917800	Weak transcription	Thymus	Thymus
50	chr14:103901200-103918400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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