Variant report

Variant	rs10483354
Chromosome Location	chr14:31430341-31430342
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	chr14:31428811..31431049-chr14:31434848..31436931,2	MCF-7	breast:
2	chr14:31425052..31427072-chr14:31430189..31431943,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10129393	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs10150991	0.84[ASN][1000 genomes]
rs1474800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17097598	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs179716	0.88[ASN][1000 genomes]
rs179729	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs179732	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1955562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1955563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1955566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2179932	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs2750114	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3736743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3742920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4981083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4981801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61116407	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7142286	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7153166	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7158412	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7158988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73256099	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73257912	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73260377	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74040963	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8008339	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8010398	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs8010967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8020369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9322868	0.84[CHB][hapmap]
rs9635154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv901585	chr14:31365884-31433473	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1231	chr14:31424602-31444721	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31360200-31435600	Weak transcription	Gastric	stomach
3	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
4	chr14:31363000-31430600	Weak transcription	Brain Angular Gyrus	brain
5	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
6	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
7	chr14:31377800-31435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
9	chr14:31378800-31435200	Weak transcription	Aorta	Aorta
10	chr14:31378800-31435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:31395000-31435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:31395000-31435200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:31410600-31435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:31413400-31435200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:31414800-31434200	Weak transcription	Fetal Kidney	kidney
16	chr14:31415000-31437200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:31415800-31435200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:31416000-31433000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:31416000-31435200	Weak transcription	Spleen	Spleen
20	chr14:31416000-31435400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:31416000-31435400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr14:31416000-31435600	Weak transcription	NHLF	lung
23	chr14:31416200-31433600	Weak transcription	Fetal Brain Female	brain
24	chr14:31416200-31434000	Weak transcription	Brain Hippocampus Middle	brain
25	chr14:31416200-31435600	Weak transcription	Thymus	Thymus
26	chr14:31416600-31435600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr14:31416600-31435800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr14:31416800-31433200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:31417000-31435200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr14:31417000-31435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:31418200-31434000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:31419200-31434000	Weak transcription	HSMMtube	muscle
33	chr14:31419400-31432400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:31420000-31435400	Weak transcription	Fetal Thymus	thymus
35	chr14:31420200-31430800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr14:31420800-31433200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr14:31420800-31435400	Weak transcription	NHDF-Ad	bronchial
39	chr14:31423200-31433000	Weak transcription	Fetal Stomach	stomach
40	chr14:31423200-31433200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:31423200-31433200	Weak transcription	Fetal Brain Male	brain
42	chr14:31423200-31433200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr14:31423200-31435200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:31423200-31435200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:31423400-31430800	Weak transcription	Ovary	ovary
46	chr14:31423400-31433000	Weak transcription	K562	blood
47	chr14:31423400-31433800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:31423400-31435400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr14:31423400-31435400	Weak transcription	NHEK	skin
50	chr14:31423400-31435600	Weak transcription	Hela-S3	cervix

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