Variant report

Variant	rs171410
Chromosome Location	chr14:56644074-56644075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56643693..56645416-chr14:56800419..56803265,2	K562	blood:
2	chr14:56643728..56646285-chr14:56664453..56666938,2	K562	blood:
3	chr14:56642724..56645085-chr14:56645818..56648163,2	K562	blood:
4	chr14:56643621..56646971-chr14:56684832..56688465,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10483657	0.80[CEU][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17832621	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs242397	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242399	0.93[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242401	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs242403	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242404	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242408	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242409	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242411	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242412	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs242415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242416	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783655	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3783673	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3783677	0.80[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs3783682	0.80[CEU][hapmap];0.90[CHB][hapmap]
rs3783683	0.80[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs3825619	0.80[ASN][1000 genomes]
rs55724547	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55764336	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56387985	0.83[ASN][1000 genomes]
rs57405940	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58069847	0.80[ASN][1000 genomes]
rs72714350	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72717977	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72717992	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56627200-56645000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:56633800-56645000	Weak transcription	Primary B cells from cord blood	blood
3	chr14:56634400-56644200	Enhancers	Pancreas	Pancrea
4	chr14:56635000-56654600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:56635600-56647200	Weak transcription	Ovary	ovary
6	chr14:56638400-56644200	Enhancers	Primary hematopoietic stem cells	blood
7	chr14:56639000-56645000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr14:56639200-56645000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:56639200-56647200	Weak transcription	Left Ventricle	heart
10	chr14:56639200-56662000	Weak transcription	Right Ventricle	heart
11	chr14:56639400-56645000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr14:56639400-56652800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr14:56639400-56659200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:56639800-56645000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:56639800-56647400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:56639800-56647400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:56639800-56647400	Weak transcription	Aorta	Aorta
18	chr14:56640000-56646800	Weak transcription	Adipose Nuclei	Adipose
19	chr14:56640000-56647600	Weak transcription	K562	blood
20	chr14:56640000-56648800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr14:56640000-56652400	Weak transcription	Brain Substantia Nigra	brain
22	chr14:56640000-56652600	Weak transcription	Brain Anterior Caudate	brain
23	chr14:56640000-56652800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:56640000-56659800	Weak transcription	Fetal Intestine Large	intestine
25	chr14:56640000-56661800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:56640200-56644200	Enhancers	Fetal Thymus	thymus
27	chr14:56640200-56647600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr14:56640200-56648000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:56640400-56644400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:56640400-56645200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:56640400-56649600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr14:56640400-56661000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr14:56640600-56644600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:56640600-56646600	Weak transcription	HUVEC	blood vessel
35	chr14:56640600-56655800	Weak transcription	NHLF	lung
36	chr14:56640800-56647600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:56640800-56648200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:56640800-56653000	Weak transcription	Primary T cells from cord blood	blood
39	chr14:56641000-56660800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:56641600-56644400	Enhancers	Colon Smooth Muscle	Colon
41	chr14:56642600-56645000	Weak transcription	Fetal Stomach	stomach
42	chr14:56642600-56645000	Weak transcription	Stomach Mucosa	stomach
43	chr14:56642800-56645000	Weak transcription	Fetal Intestine Small	intestine
44	chr14:56643000-56644200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr14:56643200-56644200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:56643200-56645000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:56643400-56645000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr14:56643400-56645000	Weak transcription	Lung	lung
49	chr14:56643400-56647200	Weak transcription	Gastric	stomach
50	chr14:56643400-56662000	Weak transcription	Spleen	Spleen

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