Variant report

Variant	rs6866325
Chromosome Location	chr5:43530035-43530036
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43529158..43531590-chr5:43533349..43536059,2	MCF-7	breast:
2	chr5:43524169..43526284-chr5:43529036..43531256,3	K562	blood:
3	chr5:43515775..43517317-chr5:43528629..43530666,2	MCF-7	breast:
4	chr5:43121477..43123542-chr5:43528302..43530920,2	MCF-7	breast:
5	chr5:43528692..43531315-chr5:43553476..43557686,3	MCF-7	breast:
6	chr5:43485676..43488495-chr5:43528382..43530215,2	K562	blood:
7	chr5:43524064..43525669-chr5:43529470..43531232,2	K562	blood:
8	chr5:43528925..43530823-chr5:43555438..43557032,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172239	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10036954	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10038545	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10053229	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10054519	0.83[EUR][1000 genomes]
rs10055801	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs10059912	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10059993	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10065689	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10066408	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10068064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10074682	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10462051	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10472380	0.82[EUR][1000 genomes]
rs10473310	0.81[EUR][1000 genomes]
rs10473311	0.81[ASN][1000 genomes]
rs11742171	0.83[JPT][hapmap]
rs11949083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11958046	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12187908	0.85[JPT][hapmap]
rs12332560	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12521249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12651879	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12697457	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13189484	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13359906	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13360902	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1366410	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1389868	1.00[JPT][hapmap]
rs1389870	0.83[EUR][1000 genomes]
rs1593971	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2131998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2132001	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2132003	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28437972	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28606458	0.82[ASN][1000 genomes]
rs3776423	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3806870	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4072918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4072919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4331909	1.00[ASN][1000 genomes]
rs4386738	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4428418	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4467713	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4535459	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4610465	0.85[EUR][1000 genomes]
rs4866822	0.80[JPT][hapmap]
rs4866833	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4866835	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55667604	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55855322	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56008952	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56097465	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56252541	0.82[ASN][1000 genomes]
rs56333629	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57403343	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59001943	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59224335	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60297702	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451695	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6451696	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6451697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6451698	0.86[JPT][hapmap]
rs6451699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6451704	0.84[ASN][1000 genomes]
rs6451705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6451712	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66495712	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67466542	0.92[ASN][1000 genomes]
rs67581152	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6858942	0.80[ASN][1000 genomes]
rs6860493	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6862102	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6866802	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869933	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870018	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6878770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6884661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6885679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6891363	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6896693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6898866	0.86[ASN][1000 genomes]
rs72756535	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72758674	0.84[ASN][1000 genomes]
rs750583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs754301	0.82[CHB][hapmap]
rs7703662	0.96[CEU][hapmap]
rs7705166	0.85[CHB][hapmap];0.86[ASN][1000 genomes]
rs7706431	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7708779	0.81[JPT][hapmap]
rs7710628	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7713479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7715782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7717636	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7718627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7732656	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7734393	0.83[ASN][1000 genomes]
rs7736108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7736615	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7737793	0.90[EUR][1000 genomes]
rs9687341	0.94[ASN][1000 genomes]
rs9885189	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1835057	chr5:43515280-43557405	Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	esv1835614	chr5:43515280-43561759	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	esv1837000	chr5:43515280-43561759	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	nsv823062	chr5:43529365-43530255	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6866325	NNT	cis	multi-tissue	Pritchard
rs6866325	NNT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43515600-43533800	Weak transcription	Small Intestine	intestine
2	chr5:43515600-43534000	Weak transcription	Esophagus	oesophagus
3	chr5:43516000-43533800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:43516000-43534000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:43516200-43532800	Weak transcription	Fetal Heart	heart
6	chr5:43516200-43533600	Weak transcription	Brain Substantia Nigra	brain
7	chr5:43516200-43534200	Weak transcription	Stomach Mucosa	stomach
8	chr5:43516400-43534000	Weak transcription	Pancreas	Pancrea
9	chr5:43522200-43534000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:43523200-43550600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:43523200-43551600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:43523200-43551800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:43523200-43552200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:43523400-43551000	Strong transcription	Liver	Liver
15	chr5:43523400-43553600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:43523400-43554600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr5:43523600-43551000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr5:43523600-43554200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr5:43524000-43540200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:43524000-43555200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:43524200-43539600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:43524200-43553600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:43524600-43530200	Weak transcription	Psoas Muscle	Psoas
24	chr5:43524600-43533800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:43524800-43553600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:43525000-43531400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr5:43525000-43552400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:43525200-43548600	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr5:43525400-43553400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:43525600-43541800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:43525800-43530200	Weak transcription	Brain Germinal Matrix	brain
32	chr5:43526000-43530200	Weak transcription	Fetal Brain Female	brain
33	chr5:43526000-43530400	Weak transcription	Thymus	Thymus
34	chr5:43526000-43533200	Weak transcription	Spleen	Spleen
35	chr5:43526000-43533800	Weak transcription	Right Ventricle	heart
36	chr5:43526000-43534000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:43526000-43534000	Weak transcription	Aorta	Aorta
38	chr5:43526000-43534000	Weak transcription	Gastric	stomach
39	chr5:43526000-43553200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:43526000-43554200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:43526200-43533600	Weak transcription	Brain Angular Gyrus	brain
42	chr5:43526600-43534000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:43527200-43531400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr5:43527200-43538000	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr5:43527200-43543400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:43527200-43543400	Strong transcription	Adipose Nuclei	Adipose
47	chr5:43527200-43548200	Strong transcription	HUVEC	blood vessel
48	chr5:43527200-43550400	Strong transcription	Dnd41	blood
49	chr5:43527200-43552000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:43527200-43552400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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