Variant report

Variant	rs7737947
Chromosome Location	chr5:43616702-43616703
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43614462..43616914-chr5:43628223..43629957,2	K562	blood:
2	chr5:43556501..43559136-chr5:43614541..43617209,2	MCF-7	breast:
3	chr5:43609541..43612732-chr5:43613991..43616836,3	MCF-7	breast:
4	chr5:43614268..43615801-chr5:43616517..43619358,2	K562	blood:

Variant related genes	Relation type
ENSG00000172239	Chromatin interaction

Extended variants
information (count: 140 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs10042852	0.82[EUR][1000 genomes]
rs10058080	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs10068765	0.82[EUR][1000 genomes]
rs10074229	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10077102	0.81[EUR][1000 genomes]
rs10461740	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10461741	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10461743	0.96[ASN][1000 genomes]
rs10461744	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10462052	0.96[ASN][1000 genomes]
rs10462053	0.96[ASN][1000 genomes]
rs10462054	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10941642	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs12654258	0.94[ASN][1000 genomes]
rs12656650	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12657635	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs12657724	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs12659627	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs13155888	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs13158796	0.96[ASN][1000 genomes]
rs13160431	1.00[JPT][hapmap]
rs13161149	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13161298	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13161838	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13165869	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs13166593	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13168053	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs13170672	0.92[ASN][1000 genomes]
rs13173498	0.92[ASN][1000 genomes]
rs13173517	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs13175688	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13177107	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13181483	0.92[ASN][1000 genomes]
rs13183122	0.92[ASN][1000 genomes]
rs13186372	0.96[ASN][1000 genomes]
rs13187073	0.94[ASN][1000 genomes]
rs13187313	0.96[ASN][1000 genomes]
rs13188640	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13188683	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13189630	0.92[ASN][1000 genomes]
rs13356232	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1469436	0.92[ASN][1000 genomes]
rs16873319	1.00[JPT][hapmap]
rs16873404	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16873406	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs16873421	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16873432	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16873433	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16873435	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16873438	1.00[CEU][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16873443	0.92[ASN][1000 genomes]
rs16873454	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16873455	0.92[ASN][1000 genomes]
rs16873466	0.92[ASN][1000 genomes]
rs2042950	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs34076603	0.96[ASN][1000 genomes]
rs34079397	0.92[ASN][1000 genomes]
rs34153332	1.00[ASN][1000 genomes]
rs34225966	0.96[ASN][1000 genomes]
rs34307136	0.92[ASN][1000 genomes]
rs34330393	1.00[ASN][1000 genomes]
rs34361701	0.92[ASN][1000 genomes]
rs34361740	0.85[EUR][1000 genomes]
rs34369923	0.96[ASN][1000 genomes]
rs34577568	1.00[ASN][1000 genomes]
rs34753533	0.96[ASN][1000 genomes]
rs34760245	0.96[ASN][1000 genomes]
rs34784550	0.96[ASN][1000 genomes]
rs34985223	0.92[ASN][1000 genomes]
rs35023717	0.84[ASN][1000 genomes]
rs35069805	0.96[ASN][1000 genomes]
rs35141665	0.92[ASN][1000 genomes]
rs35201656	0.96[ASN][1000 genomes]
rs35370110	0.92[ASN][1000 genomes]
rs35393262	0.91[ASN][1000 genomes]
rs35493041	0.94[ASN][1000 genomes]
rs35768478	0.96[ASN][1000 genomes]
rs35773835	1.00[ASN][1000 genomes]
rs35826690	0.96[ASN][1000 genomes]
rs35910245	0.92[ASN][1000 genomes]
rs35979310	0.96[ASN][1000 genomes]
rs3764979	0.96[ASN][1000 genomes]
rs3764980	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3792915	1.00[ASN][1000 genomes]
rs3792916	1.00[ASN][1000 genomes]
rs3792917	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3792918	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792921	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3792922	0.92[ASN][1000 genomes]
rs3805720	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3805721	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3805722	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3805723	0.92[ASN][1000 genomes]
rs3828695	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs41271083	0.92[ASN][1000 genomes]
rs4264950	1.00[JPT][hapmap]
rs4438885	1.00[JPT][hapmap]
rs4498257	1.00[JPT][hapmap]
rs4533897	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs62367607	0.96[ASN][1000 genomes]
rs62367633	0.90[ASN][1000 genomes]
rs62367649	0.92[ASN][1000 genomes]
rs62367650	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62367651	0.92[ASN][1000 genomes]
rs62367653	0.87[ASN][1000 genomes]
rs62368560	0.83[EUR][1000 genomes]
rs62368561	0.92[ASN][1000 genomes]
rs62368564	0.92[ASN][1000 genomes]
rs62368566	0.81[EUR][1000 genomes]
rs62368567	0.92[ASN][1000 genomes]
rs62368570	0.92[ASN][1000 genomes]
rs62368571	0.92[ASN][1000 genomes]
rs62368594	0.82[EUR][1000 genomes]
rs6451719	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[ASN][1000 genomes]
rs6451720	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6862487	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6863699	0.82[EUR][1000 genomes]
rs6868763	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6873555	0.88[YRI][hapmap];0.83[AFR][1000 genomes]
rs6875118	0.82[EUR][1000 genomes]
rs6889653	1.00[JPT][hapmap]
rs6890108	1.00[JPT][hapmap]
rs6893250	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6896932	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6898436	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71590644	0.96[ASN][1000 genomes]
rs71590645	0.96[ASN][1000 genomes]
rs71629182	0.96[ASN][1000 genomes]
rs71629184	0.92[ASN][1000 genomes]
rs71629185	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71629186	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71629187	0.92[ASN][1000 genomes]
rs7700826	0.88[YRI][hapmap];0.87[AFR][1000 genomes]
rs7713458	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7713749	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7716562	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7720858	1.00[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	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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7737947		cis	Lymphoblastoid	GTEx
rs7737947	NNT	Cis_1M	lymphoblastoid	RTeQTL
rs7737947	NNT	cis	lung	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43604200-43631200	Weak transcription	A549	lung
2	chr5:43604400-43619400	Weak transcription	Placenta	Placenta
3	chr5:43604400-43619600	Weak transcription	HMEC	breast
4	chr5:43604400-43631200	Weak transcription	Pancreas	Pancrea
5	chr5:43604400-43635000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:43604400-43649200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:43604400-43649200	Weak transcription	Esophagus	oesophagus
8	chr5:43604400-43660600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:43604600-43624400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:43604600-43649800	Weak transcription	Colonic Mucosa	Colon
11	chr5:43604800-43630200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:43604800-43630800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:43604800-43635400	Weak transcription	Gastric	stomach
14	chr5:43604800-43635400	Weak transcription	Spleen	Spleen
15	chr5:43604800-43649800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:43605000-43631200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:43605000-43631400	Weak transcription	Lung	lung
18	chr5:43605000-43656000	Weak transcription	Small Intestine	intestine
19	chr5:43605200-43618400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:43605800-43625200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:43606400-43633600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr5:43606800-43648200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:43607000-43619600	Weak transcription	NHEK	skin
24	chr5:43607800-43624200	Strong transcription	Primary T cells from cord blood	blood
25	chr5:43607800-43628200	Weak transcription	Fetal Intestine Small	intestine
26	chr5:43608200-43621400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:43608400-43617000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr5:43608400-43624600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:43608400-43633600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:43608400-43640600	Strong transcription	Dnd41	blood
31	chr5:43608600-43617000	Strong transcription	Primary B cells from cord blood	blood
32	chr5:43608600-43620200	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:43608600-43620200	Strong transcription	NHDF-Ad	bronchial
34	chr5:43608600-43624200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:43608600-43624400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:43608600-43624600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr5:43608600-43624600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:43608800-43620200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr5:43608800-43624800	Strong transcription	Fetal Thymus	thymus
40	chr5:43609200-43619000	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr5:43609200-43620200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:43609200-43620200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr5:43609200-43620200	Strong transcription	GM12878-XiMat	blood
44	chr5:43609200-43620400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:43609400-43617400	Strong transcription	Brain Germinal Matrix	brain
46	chr5:43609400-43620000	Strong transcription	Fetal Brain Female	brain
47	chr5:43609400-43620200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:43609400-43620200	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr5:43609600-43617600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr5:43609600-43620000	Strong transcription	K562	blood

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