Variant report

Variant	rs6506944
Chromosome Location	chr18:29456766-29456767
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10468902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1074636	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10853415	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10853416	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11081718	1.00[JPT][hapmap]
rs11081720	0.95[JPT][hapmap]
rs11081729	0.95[JPT][hapmap]
rs11081730	0.81[EUR][1000 genomes]
rs11660557	0.95[JPT][hapmap]
rs11662341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11662697	0.95[JPT][hapmap]
rs11877256	1.00[JPT][hapmap]
rs12604640	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12604691	0.95[JPT][hapmap]
rs12606882	1.00[JPT][hapmap]
rs12606962	1.00[JPT][hapmap]
rs12607426	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12607786	0.95[JPT][hapmap]
rs12957331	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12969126	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1680643	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17741796	0.95[JPT][hapmap]
rs17742014	0.95[JPT][hapmap]
rs17742105	0.95[JPT][hapmap]
rs17804129	0.95[JPT][hapmap]
rs1786764	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1815822	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2276144	0.95[JPT][hapmap]
rs35203717	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3737374	1.00[JPT][hapmap]
rs3826612	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3865397	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4513172	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4545895	0.95[JPT][hapmap]
rs5011500	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs521491	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs549818	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs563247	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs614342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs639595	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6506945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6506946	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs675570	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67874605	0.82[EUR][1000 genomes]
rs7228817	0.95[JPT][hapmap]
rs7229979	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7230326	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7231114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7234341	1.00[JPT][hapmap]
rs7234798	1.00[JPT][hapmap]
rs7239098	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7239951	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8084869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8088396	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8094542	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs930018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9958368	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9966530	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29405600-29481800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
3	chr18:29408000-29460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:29408600-29471800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr18:29409800-29466600	Weak transcription	Gastric	stomach
6	chr18:29415800-29461800	Weak transcription	Fetal Heart	heart
7	chr18:29417600-29515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:29418400-29470400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:29419000-29460400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:29419000-29461800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr18:29419400-29458600	Weak transcription	NHLF	lung
12	chr18:29431800-29461800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr18:29431800-29499000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr18:29431800-29512600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr18:29432400-29461200	Weak transcription	Psoas Muscle	Psoas
16	chr18:29432400-29468200	Weak transcription	Small Intestine	intestine
17	chr18:29432400-29480000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr18:29432600-29481600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr18:29432600-29507600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr18:29432600-29521400	Weak transcription	Stomach Mucosa	stomach
21	chr18:29434000-29459000	Weak transcription	Hela-S3	cervix
22	chr18:29434000-29460800	Weak transcription	A549	lung
23	chr18:29435400-29458800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr18:29438000-29456800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr18:29438200-29457800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr18:29438200-29458400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr18:29441200-29460400	Weak transcription	Brain Hippocampus Middle	brain
28	chr18:29443800-29456800	Weak transcription	Brain Germinal Matrix	brain
29	chr18:29445000-29458200	Strong transcription	Fetal Intestine Large	intestine
30	chr18:29445800-29459400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr18:29446000-29489000	Strong transcription	Fetal Thymus	thymus
32	chr18:29446200-29458000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr18:29446800-29459800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr18:29447800-29459200	Strong transcription	Primary T cells from cord blood	blood
35	chr18:29448800-29459200	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr18:29449200-29457000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr18:29449200-29458800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr18:29449200-29460600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:29449200-29489000	Strong transcription	Adipose Nuclei	Adipose
40	chr18:29449400-29457600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr18:29449600-29458200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr18:29449600-29459800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr18:29450000-29464800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr18:29450200-29471800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr18:29450400-29457200	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr18:29450400-29459400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr18:29450400-29462600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr18:29450600-29457200	Strong transcription	Placenta	Placenta
49	chr18:29450600-29459200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr18:29450800-29456800	Weak transcription	Left Ventricle	heart

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