Variant report

Variant	rs327440
Chromosome Location	chr14:81226993-81226994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10133034	0.94[CHB][hapmap];0.84[EUR][1000 genomes]
rs10135084	0.93[CHB][hapmap]
rs1016699	0.88[CHB][hapmap]
rs1038523	0.94[CHB][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11627934	0.88[CHB][hapmap]
rs1197467	0.94[CHB][hapmap]
rs1197474	0.94[CHB][hapmap]
rs12050151	0.80[CHB][hapmap]
rs12050416	0.87[CHB][hapmap]
rs12433134	0.88[CHB][hapmap]
rs12434318	0.88[CHB][hapmap]
rs149626	0.81[EUR][1000 genomes]
rs150997	0.83[EUR][1000 genomes]
rs162171	0.93[CHB][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes]
rs162172	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs162174	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs162178	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs170595	0.94[CHB][hapmap]
rs17111237	0.80[CHB][hapmap]
rs17111246	0.80[CHB][hapmap]
rs17111256	0.82[CHB][hapmap]
rs1976104	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs228119	0.88[CHB][hapmap]
rs2556607	0.87[CHB][hapmap]
rs2619661	0.94[CHB][hapmap]
rs28850656	0.87[CHB][hapmap]
rs327423	0.94[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs327424	0.94[CHB][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs327425	0.81[AMR][1000 genomes]
rs327428	0.94[CHB][hapmap]
rs327429	0.94[CHB][hapmap]
rs327434	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs327435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327439	0.86[JPT][hapmap]
rs327442	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];0.99[ASN][1000 genomes]
rs327443	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs327446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327447	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs327452	0.94[CHB][hapmap]
rs327454	0.94[CHB][hapmap]
rs327456	0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs327459	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs327460	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs327462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs327463	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs327464	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs327465	0.86[JPT][hapmap]
rs327467	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327469	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327470	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327472	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327473	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327476	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327477	0.86[JPT][hapmap]
rs328206	0.94[CHB][hapmap]
rs328212	1.00[CHB][hapmap];0.80[YRI][hapmap]
rs328213	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs328239	0.86[JPT][hapmap]
rs328240	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs328241	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs328258	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]
rs4899780	0.88[CHB][hapmap]
rs6574609	0.87[CHB][hapmap]
rs7156572	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs7158936	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs759919	0.88[CHB][hapmap]
rs768359	0.87[CHB][hapmap]
rs8008366	0.94[CHB][hapmap]
rs8011273	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9323694	0.93[CHB][hapmap]

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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv565290	chr14:81085129-81230117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1035295	chr14:81180999-81236636	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:81199800-81248600	Weak transcription	Primary T cells from cord blood	blood
3	chr14:81203800-81229000	Weak transcription	Left Ventricle	heart
4	chr14:81205000-81261000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:81207200-81232600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:81207600-81230800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:81207600-81265400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:81208400-81240400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:81208800-81232400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:81209400-81227800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:81209400-81229000	Weak transcription	Fetal Lung	lung
12	chr14:81209600-81248200	Weak transcription	HSMM	muscle
13	chr14:81210600-81230400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:81212800-81227000	Weak transcription	Adipose Nuclei	Adipose
15	chr14:81213400-81231200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:81215800-81236200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:81219200-81228600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:81220600-81227000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:81220600-81229200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr14:81221000-81238600	Weak transcription	Ovary	ovary
21	chr14:81221200-81230800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:81221400-81238600	Weak transcription	Thymus	Thymus
23	chr14:81221600-81236200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:81221800-81229000	Weak transcription	NHDF-Ad	bronchial
25	chr14:81222400-81260000	Weak transcription	Fetal Brain Female	brain
26	chr14:81223000-81230800	Weak transcription	NHEK	skin
27	chr14:81223200-81229000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:81223200-81250800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr14:81223400-81234000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:81224800-81229400	Strong transcription	Dnd41	blood
31	chr14:81226200-81227000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr14:81226800-81227400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr14:81226800-81228200	Strong transcription	Fetal Thymus	thymus

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