Variant report

Variant	rs12882853
Chromosome Location	chr14:97330150-97330151
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	chr14:97319813..97321735-chr14:97328609..97330442,2	K562	blood:

Variant related genes	Relation type
ENSG00000100749	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10131201	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10131630	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10145383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10146571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10149107	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10873476	0.80[ASN][1000 genomes]
rs11160369	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11160371	0.90[ASN][1000 genomes]
rs11160375	0.80[ASN][1000 genomes]
rs11628733	0.82[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs12433112	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12434466	0.80[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12435963	0.88[ASN][1000 genomes]
rs12589919	0.90[CHB][hapmap]
rs12590723	0.88[ASN][1000 genomes]
rs12878184	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12894621	0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs12897588	0.90[CHB][hapmap]
rs12897731	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1951311	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951312	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1957137	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2145636	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2180896	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2224442	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2230532	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3825576	0.87[ASN][1000 genomes]
rs4270096	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]
rs4900346	0.90[CHB][hapmap]
rs4900347	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4900349	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4900350	0.88[CEU][hapmap];0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs4900351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4900353	1.00[CHB][hapmap]
rs4905546	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4905547	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4905548	0.91[CHB][hapmap]
rs4905551	1.00[CHB][hapmap]
rs4905552	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4905553	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4905555	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4905557	1.00[CEU][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4905558	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4905560	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4905564	0.81[ASN][1000 genomes]
rs4905568	0.83[ASN][1000 genomes]
rs58514314	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61981027	0.96[ASN][1000 genomes]
rs67804110	0.84[ASN][1000 genomes]
rs67957817	0.85[ASN][1000 genomes]
rs7141028	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71419296	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7156355	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs722869	0.83[ASN][1000 genomes]
rs723810	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs736929	1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs749279	1.00[CHB][hapmap]
rs764300	0.91[CHB][hapmap]
rs8013081	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8016614	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9285600	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9323951	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9323954	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9323955	0.90[CHB][hapmap];0.81[ASN][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	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	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97294000-97362600	Weak transcription	Spleen	Spleen
2	chr14:97297600-97353400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:97298800-97348800	Strong transcription	Dnd41	blood
4	chr14:97298800-97350600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:97299400-97353600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:97300600-97332000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:97303400-97371600	Weak transcription	Ovary	ovary
8	chr14:97303600-97337400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:97306000-97330200	Weak transcription	Fetal Brain Female	brain
10	chr14:97308200-97348800	Weak transcription	Fetal Intestine Small	intestine
11	chr14:97309600-97344400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:97312800-97333200	Weak transcription	HSMMtube	muscle
13	chr14:97314800-97333400	Weak transcription	Esophagus	oesophagus
14	chr14:97314800-97344000	Weak transcription	Fetal Muscle Leg	muscle
15	chr14:97314800-97347600	Weak transcription	Lung	lung
16	chr14:97314800-97355000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:97315600-97343800	Weak transcription	Left Ventricle	heart
18	chr14:97315600-97346600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:97315600-97350400	Weak transcription	NHDF-Ad	bronchial
20	chr14:97316000-97344400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr14:97321800-97331200	Strong transcription	Fetal Thymus	thymus
22	chr14:97321800-97343800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr14:97322000-97344600	Weak transcription	HUVEC	blood vessel
24	chr14:97322000-97348400	Weak transcription	HSMM	muscle
25	chr14:97322200-97354200	Weak transcription	Hela-S3	cervix
26	chr14:97323800-97354600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:97324000-97331600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:97324000-97342400	Weak transcription	Fetal Intestine Large	intestine
29	chr14:97324000-97350800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:97324000-97352600	Weak transcription	HMEC	breast
31	chr14:97324200-97330200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:97324200-97331600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:97324200-97342000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:97324200-97342000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:97324200-97342400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr14:97324200-97346400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:97324200-97348400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr14:97324200-97350600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr14:97324200-97354200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:97324400-97332400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr14:97324400-97346000	Weak transcription	HepG2	liver
42	chr14:97324800-97346600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:97325200-97342200	Weak transcription	Adipose Nuclei	Adipose
44	chr14:97325200-97342600	Weak transcription	GM12878-XiMat	blood
45	chr14:97325200-97353800	Weak transcription	Fetal Lung	lung
46	chr14:97325200-97354600	Weak transcription	Thymus	Thymus
47	chr14:97325400-97330400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:97325600-97342200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr14:97325600-97362000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr14:97326200-97330600	Weak transcription	A549	lung

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