Variant report

Variant	rs6882035
Chromosome Location	chr5:74065821-74065822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74062619..74065180-chr5:74065672..74068766,3	K562	blood:

Variant related genes	Relation type
ENSG00000164347	Chromatin interaction
ENSG00000164346	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1048167	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10515192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515199	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11739122	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11742773	0.92[AFR][1000 genomes]
rs11749137	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs11959570	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1350097	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs16872220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872242	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16872323	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16872345	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16872347	0.81[AFR][1000 genomes]
rs16872349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16872362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17561738	0.86[ASN][1000 genomes]
rs2061162	1.00[YRI][hapmap]
rs2084116	0.92[AFR][1000 genomes]
rs2084118	0.92[AFR][1000 genomes]
rs2100033	0.92[AFR][1000 genomes]
rs3733794	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs55899032	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55920995	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56127814	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56192858	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56203772	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57202395	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57549677	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58864890	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60492282	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60663580	0.93[AFR][1000 genomes]
rs62366414	0.93[AFR][1000 genomes]
rs62366423	0.86[AFR][1000 genomes]
rs62366426	0.86[AFR][1000 genomes]
rs6453076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453082	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6861935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6870806	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6873912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6873998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877442	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs6881400	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6882499	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs6883061	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs6883278	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6883420	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6884338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6884843	0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs6885675	0.92[AFR][1000 genomes]
rs6894177	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897698	0.86[AFR][1000 genomes]
rs6897904	0.86[AFR][1000 genomes]
rs6898684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764630	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764643	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764647	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764648	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764650	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764655	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764657	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764663	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72764669	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72764675	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72764676	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72764683	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72764684	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72764687	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72764690	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72766504	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7705519	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7713812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728889	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7732440	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957680	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9686657	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs9765469	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598653	chr5:73992881-74095542	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs6882035	NSA2	cis	Thyroid	GTEx
rs6882035	TINP1	cis	normal skin	skin_eQTL
rs6882035	NSA2	cis	Artery Aorta	GTEx
rs6882035	NSA2	cis	Skin Sun Exposed Lower leg	GTEx
rs6882035	NSA2	cis	Esophagus Muscularis	GTEx
rs6882035	NSA2	cis	Stomach	GTEx
rs6882035	NSA2	cis	Artery Tibial	GTEx
rs6882035	TINP1	cis	uninvolved skin	skin_eQTL
rs6882035	TINP1	Cis_1M	lymphoblastoid	RTeQTL
rs6882035	TINP1	cis	multi-tissue	Pritchard
rs6882035	NSA2	cis	Whole Blood	GTEx
rs6882035	NSA2	cis	Muscle Skeletal	GTEx
rs6882035	NSA2	cis	Adipose Subcutaneous	GTEx
rs6882035	NSA2	cis	lung	GTEx
rs6882035	NSA2	cis	Nerve Tibial	GTEx
rs6882035	NSA2	cis	Esophagus Mucosa	GTEx
rs6882035	TINP1	cis	lesional skin	skin_eQTL
rs6882035	NSA2	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74063800-74069200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:74064000-74067800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:74064000-74068000	Weak transcription	Ovary	ovary
4	chr5:74064000-74068200	Weak transcription	Lung	lung
5	chr5:74064000-74070200	Weak transcription	Aorta	Aorta
6	chr5:74064000-74071000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:74064000-74076000	Weak transcription	Esophagus	oesophagus
8	chr5:74064000-74077200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:74064000-74112400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:74064200-74066200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:74064200-74066200	Weak transcription	Colonic Mucosa	Colon
12	chr5:74064200-74067000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:74064200-74067400	Weak transcription	Right Ventricle	heart
14	chr5:74064200-74067600	Weak transcription	HSMMtube	muscle
15	chr5:74064200-74067800	Weak transcription	Psoas Muscle	Psoas
16	chr5:74064200-74068000	Weak transcription	Spleen	Spleen
17	chr5:74064200-74068200	Weak transcription	Primary B cells from cord blood	blood
18	chr5:74064200-74068200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:74064200-74068400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:74064200-74068400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:74064200-74068400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:74064200-74068600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:74064200-74069000	Weak transcription	Thymus	Thymus
24	chr5:74064200-74070600	Weak transcription	Pancreas	Pancrea
25	chr5:74064200-74073000	Weak transcription	Gastric	stomach
26	chr5:74064200-74073800	Weak transcription	Small Intestine	intestine
27	chr5:74064200-74076000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:74064200-74086000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:74064200-74102000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:74064400-74066800	Weak transcription	Fetal Stomach	stomach
31	chr5:74064400-74067000	Weak transcription	Fetal Brain Female	brain
32	chr5:74064400-74067200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:74064400-74067800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:74064400-74068200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr5:74064400-74068400	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:74064400-74068400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:74064400-74068400	Weak transcription	NHLF	lung
38	chr5:74064400-74068600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr5:74064400-74068600	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:74064400-74073800	Weak transcription	Stomach Mucosa	stomach
41	chr5:74064400-74076600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr5:74064400-74079600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:74064400-74086600	Weak transcription	Fetal Heart	heart
44	chr5:74064400-74134600	Weak transcription	Fetal Brain Male	brain
45	chr5:74064600-74068000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:74064600-74068400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr5:74064600-74068400	Weak transcription	NHEK	skin
48	chr5:74064600-74074400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:74064600-74079400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:74064600-74079600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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