Variant report

Variant	rs1951311
Chromosome Location	chr14:97312642-97312643
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	chr14:97303558..97306091-chr14:97311531..97314081,2	K562	blood:
2	chr14:97308706..97311091-chr14:97311481..97313480,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10131201	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10131630	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10145383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10146571	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10149107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873476	0.82[ASN][1000 genomes]
rs11160369	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11160371	0.91[ASN][1000 genomes]
rs11160375	0.82[ASN][1000 genomes]
rs11628733	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs12433112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434466	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12435963	0.90[ASN][1000 genomes]
rs12589919	0.81[CHB][hapmap]
rs12590723	0.90[ASN][1000 genomes]
rs12878184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12882853	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12894621	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs12897588	1.00[CHB][hapmap]
rs12897731	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1951312	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1957137	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2145636	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs2180896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224442	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2230532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825576	0.91[ASN][1000 genomes]
rs4270096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900346	1.00[CHB][hapmap]
rs4900347	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4900349	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4900350	0.84[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4900351	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4900353	0.90[CHB][hapmap]
rs4905546	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4905547	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4905548	1.00[CHB][hapmap]
rs4905551	1.00[CHB][hapmap]
rs4905552	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4905553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4905555	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4905557	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4905558	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4905560	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4905564	0.82[ASN][1000 genomes]
rs4905568	0.84[ASN][1000 genomes]
rs58514314	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61981027	1.00[ASN][1000 genomes]
rs67804110	0.87[ASN][1000 genomes]
rs67957817	0.86[ASN][1000 genomes]
rs7141028	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71419296	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7156355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs722869	0.86[ASN][1000 genomes]
rs723810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736929	0.90[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs749279	0.90[CHB][hapmap]
rs764300	1.00[CHB][hapmap]
rs8013081	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8016614	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9285600	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9323951	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9323954	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323955	1.00[CHB][hapmap];0.85[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	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv510650	chr14:97238489-97325221	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1052138	chr14:97271794-97322583	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv542180	chr14:97271794-97322583	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1043916	chr14:97275088-97320354	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1051182	chr14:97275088-97337039	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97264800-97321600	Weak transcription	Psoas Muscle	Psoas
2	chr14:97271600-97313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:97284600-97313800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:97288200-97314400	Weak transcription	Lung	lung
5	chr14:97291000-97326000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:97291200-97326200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:97293400-97313800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:97293400-97326400	Weak transcription	Fetal Stomach	stomach
9	chr14:97293600-97323400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:97293800-97313800	Weak transcription	Fetal Lung	lung
11	chr14:97294000-97314400	Weak transcription	Esophagus	oesophagus
12	chr14:97294000-97323000	Weak transcription	Gastric	stomach
13	chr14:97294000-97362600	Weak transcription	Spleen	Spleen
14	chr14:97294600-97313800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr14:97296200-97318400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:97297400-97323000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:97297400-97328000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:97297600-97353400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:97298000-97313600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:97298200-97313800	Weak transcription	Left Ventricle	heart
21	chr14:97298600-97313800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr14:97298800-97348800	Strong transcription	Dnd41	blood
23	chr14:97298800-97350600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:97299000-97328200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:97299200-97315800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr14:97299200-97316200	Weak transcription	Pancreas	Pancrea
27	chr14:97299200-97318400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:97299200-97329600	Weak transcription	Osteobl	bone
29	chr14:97299400-97313800	Weak transcription	Fetal Intestine Large	intestine
30	chr14:97299400-97313800	Weak transcription	Right Ventricle	heart
31	chr14:97299400-97329600	Weak transcription	NHEK	skin
32	chr14:97299400-97353600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:97299600-97313800	Weak transcription	Liver	Liver
34	chr14:97299600-97314400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:97299800-97313600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr14:97300200-97319000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:97300200-97323200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:97300400-97321400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:97300600-97322600	Weak transcription	Fetal Kidney	kidney
40	chr14:97300600-97329800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:97300600-97332000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:97301200-97313600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:97301400-97313800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr14:97301800-97313200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:97302200-97314000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:97302200-97314000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:97303000-97313600	Weak transcription	NH-A	brain
48	chr14:97303400-97313200	Weak transcription	HepG2	liver
49	chr14:97303400-97313600	Weak transcription	Adipose Nuclei	Adipose
50	chr14:97303400-97313800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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