Variant report

Variant	rs997794
Chromosome Location	chr14:66192727-66192728
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10083328	0.86[EUR][1000 genomes]
rs10130526	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10131727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10143920	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10149311	0.81[ASN][1000 genomes]
rs10151521	0.81[EUR][1000 genomes]
rs11845391	0.81[EUR][1000 genomes]
rs11846051	0.81[EUR][1000 genomes]
rs11846827	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11847101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849249	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849408	1.00[CEU][hapmap]
rs11849792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12431772	0.88[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs12432032	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12432422	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12432550	0.91[EUR][1000 genomes]
rs12433273	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12434375	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12434626	0.83[ASN][1000 genomes]
rs12435769	0.94[ASN][1000 genomes]
rs12435809	0.87[ASN][1000 genomes]
rs12435971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436349	1.00[JPT][hapmap]
rs12436381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12436402	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12436482	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12436677	0.87[ASN][1000 genomes]
rs12436771	0.88[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12437088	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs17102760	1.00[CEU][hapmap]
rs17102783	1.00[CEU][hapmap]
rs17102839	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17102854	0.94[ASN][1000 genomes]
rs17102894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102898	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17246385	0.87[ASN][1000 genomes]
rs17246441	0.98[ASN][1000 genomes]
rs17246504	0.85[ASN][1000 genomes]
rs17246532	0.94[ASN][1000 genomes]
rs17826892	0.98[ASN][1000 genomes]
rs17826946	0.98[ASN][1000 genomes]
rs17826952	0.98[ASN][1000 genomes]
rs1952605	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2073295	0.98[ASN][1000 genomes]
rs2268965	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2295360	0.85[ASN][1000 genomes]
rs2300863	0.92[ASN][1000 genomes]
rs2300866	0.92[ASN][1000 genomes]
rs2300870	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs28402125	0.84[EUR][1000 genomes]
rs28496380	0.94[ASN][1000 genomes]
rs28583930	0.84[EUR][1000 genomes]
rs28666667	0.84[EUR][1000 genomes]
rs2898701	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4343192	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs55853120	0.84[EUR][1000 genomes]
rs56182635	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58087042	0.83[ASN][1000 genomes]
rs59036531	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61417186	0.83[ASN][1000 genomes]
rs61987768	0.81[EUR][1000 genomes]
rs61987770	0.81[EUR][1000 genomes]
rs61987773	0.81[EUR][1000 genomes]
rs61987776	0.81[EUR][1000 genomes]
rs61987778	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987779	0.81[EUR][1000 genomes]
rs61987781	0.81[EUR][1000 genomes]
rs61987809	0.84[EUR][1000 genomes]
rs61987810	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61987811	0.81[EUR][1000 genomes]
rs61987812	0.84[EUR][1000 genomes]
rs61987814	0.81[EUR][1000 genomes]
rs61987815	0.84[EUR][1000 genomes]
rs61988021	0.81[EUR][1000 genomes]
rs61988022	0.81[EUR][1000 genomes]
rs6573620	1.00[CEU][hapmap]
rs7143112	1.00[CEU][hapmap]
rs7143525	0.81[EUR][1000 genomes]
rs7144234	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7148883	0.81[EUR][1000 genomes]
rs7153718	1.00[CEU][hapmap]
rs7154526	0.81[EUR][1000 genomes]
rs7154876	0.81[EUR][1000 genomes]
rs7155055	1.00[CEU][hapmap]
rs730127	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7342545	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs74056820	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74056844	0.81[ASN][1000 genomes]
rs74056845	0.81[ASN][1000 genomes]
rs74058525	0.83[ASN][1000 genomes]
rs74058541	0.83[ASN][1000 genomes]
rs74058560	0.94[ASN][1000 genomes]
rs74058562	0.94[ASN][1000 genomes]
rs8003093	1.00[CEU][hapmap]
rs8004564	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8004852	0.81[EUR][1000 genomes]
rs8019214	1.00[CEU][hapmap]
rs927005	0.84[EUR][1000 genomes]
rs956582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66179000-66206200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:66182800-66195800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:66184600-66196000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:66184600-66198600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:66185400-66209000	Weak transcription	Brain Angular Gyrus	brain
6	chr14:66186400-66192800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:66186400-66208800	Weak transcription	Fetal Brain Female	brain
8	chr14:66186800-66193600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:66187000-66209000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:66187200-66193800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:66187400-66208600	Weak transcription	Placenta	Placenta
12	chr14:66187600-66193800	Weak transcription	Left Ventricle	heart
13	chr14:66187600-66200000	Weak transcription	Brain Substantia Nigra	brain
14	chr14:66187800-66193000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:66187800-66193200	Weak transcription	Fetal Stomach	stomach
16	chr14:66188000-66193400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:66188000-66193800	Weak transcription	Brain Germinal Matrix	brain
18	chr14:66188000-66196800	Strong transcription	Primary B cells from cord blood	blood
19	chr14:66188000-66210800	Weak transcription	Fetal Lung	lung
20	chr14:66188200-66201400	Weak transcription	Psoas Muscle	Psoas
21	chr14:66188400-66193600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:66188400-66193800	Strong transcription	Duodenum Mucosa	Duodenum
23	chr14:66188400-66197000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:66188400-66210600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr14:66188600-66194400	Strong transcription	Fetal Intestine Large	intestine
26	chr14:66188600-66195000	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:66188800-66208800	Weak transcription	Liver	Liver
28	chr14:66189000-66196800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:66189000-66209000	Weak transcription	NHDF-Ad	bronchial
30	chr14:66189600-66194000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:66189600-66210800	Weak transcription	NHLF	lung
32	chr14:66189800-66193600	Weak transcription	Spleen	Spleen
33	chr14:66189800-66209000	Weak transcription	HSMMtube	muscle
34	chr14:66190000-66208800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:66190000-66210800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr14:66190200-66193800	Weak transcription	Thymus	Thymus
37	chr14:66190200-66197800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr14:66190200-66198400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr14:66190200-66210800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr14:66190400-66198600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr14:66190400-66217000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr14:66190600-66193400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr14:66190600-66193800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr14:66190600-66196800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr14:66190600-66197200	Strong transcription	Primary T cells from cord blood	blood
46	chr14:66190800-66193200	Strong transcription	Adipose Nuclei	Adipose
47	chr14:66190800-66193200	ZNF genes & repeats	Dnd41	blood
48	chr14:66190800-66193800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:66190800-66193800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr14:66190800-66194400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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