Variant report

Variant	rs6571409
Chromosome Location	chr14:31797463-31797464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10130574	0.85[AMR][1000 genomes]
rs10132752	0.83[AMR][1000 genomes]
rs10134212	1.00[CEU][hapmap]
rs10147468	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs10148707	0.84[JPT][hapmap]
rs11156668	0.82[AMR][1000 genomes]
rs11627179	0.82[AMR][1000 genomes]
rs11844036	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs11850326	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes]
rs12586712	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs12885363	1.00[CEU][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes]
rs12886557	0.85[AMR][1000 genomes]
rs17097814	1.00[CEU][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes]
rs2094131	0.89[AMR][1000 genomes]
rs2182256	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes]
rs2378851	0.90[AMR][1000 genomes]
rs2378852	0.85[AMR][1000 genomes]
rs2378853	0.82[AMR][1000 genomes]
rs2378857	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs3736918	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes]
rs3887865	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs4595710	0.83[AMR][1000 genomes]
rs4981838	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs4981840	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes]
rs5025288	1.00[CEU][hapmap];0.92[JPT][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes]
rs6571408	0.89[AMR][1000 genomes]
rs7149420	0.81[AMR][1000 genomes]
rs7151153	0.81[AMR][1000 genomes]
rs7151378	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes]
rs7156569	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AMR][1000 genomes]
rs7158257	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes]
rs7160175	1.00[CEU][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes]
rs7161078	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes]
rs8007411	1.00[CEU][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes]
rs8008358	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs8012940	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes]
rs8016487	0.89[AMR][1000 genomes]
rs942907	1.00[CEU][hapmap];0.92[JPT][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	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31762800-31811800	Weak transcription	Fetal Heart	heart
2	chr14:31768000-31798600	Weak transcription	Brain Germinal Matrix	brain
3	chr14:31768000-31805800	Weak transcription	NHEK	skin
4	chr14:31768200-31799200	Weak transcription	Colonic Mucosa	Colon
5	chr14:31768400-31798600	Weak transcription	Fetal Brain Female	brain
6	chr14:31769800-31798600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:31770000-31798200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:31770000-31812600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:31770400-31802800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr14:31771600-31798600	Weak transcription	A549	lung
12	chr14:31772400-31825200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:31773400-31798200	Weak transcription	Right Ventricle	heart
14	chr14:31774400-31798600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:31774400-31800400	Weak transcription	Brain Angular Gyrus	brain
16	chr14:31774600-31811200	Weak transcription	HUVEC	blood vessel
17	chr14:31777200-31799400	Weak transcription	Primary T cells from cord blood	blood
18	chr14:31782200-31813000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:31782200-31814000	Weak transcription	Fetal Kidney	kidney
20	chr14:31782200-31875200	Weak transcription	Gastric	stomach
21	chr14:31782400-31798800	Weak transcription	Spleen	Spleen
22	chr14:31782400-31799200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:31782400-31799200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr14:31782400-31827000	Weak transcription	Aorta	Aorta
25	chr14:31782600-31798600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:31782600-31798800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:31782600-31798800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:31784600-31798600	Weak transcription	Brain Substantia Nigra	brain
29	chr14:31785000-31798000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:31785200-31798000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:31785200-31798200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr14:31785200-31799200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr14:31785400-31798000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:31785600-31798600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr14:31786200-31798600	Weak transcription	Esophagus	oesophagus
36	chr14:31786200-31799400	Weak transcription	Pancreas	Pancrea
37	chr14:31787000-31799200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr14:31787200-31809200	Weak transcription	NHLF	lung
39	chr14:31787400-31799200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:31787600-31798600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr14:31787800-31798200	Weak transcription	Brain Anterior Caudate	brain
42	chr14:31788200-31798000	Weak transcription	Fetal Intestine Large	intestine
43	chr14:31788200-31798600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:31788200-31798600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:31789800-31798000	Weak transcription	Primary B cells from cord blood	blood
46	chr14:31789800-31798600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:31789800-31798600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:31789800-31805800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr14:31789800-31806800	Weak transcription	Psoas Muscle	Psoas
50	chr14:31790000-31798400	Weak transcription	Fetal Muscle Trunk	muscle

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