Variant report

Variant	rs6681169
Chromosome Location	chr1:94314834-94314835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94311992..94315197-chr1:94341852..94346150,3	MCF-7	breast:
2	chr1:94313358..94316025-chr1:94316812..94319394,2	MCF-7	breast:
3	chr1:94310214..94315053-chr1:94342432..94346579,12	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FNBP1L-2	chr1:94312708-94317158	NONHSAT004550

Variant related genes	Relation type
ENSG00000067334	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1051394	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11165021	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11165022	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11165023	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11165025	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11165026	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12023010	0.92[AFR][1000 genomes]
rs12029548	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12029637	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12029670	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12041975	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12097812	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12758972	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1884019	0.80[EUR][1000 genomes]
rs2092698	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2092699	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2103784	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2143992	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2273165	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2273166	0.86[ASN][1000 genomes]
rs2391315	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2391321	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3789459	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3789460	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4847191	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4847192	0.80[EUR][1000 genomes]
rs4847193	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4847263	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4847264	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6664876	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6666633	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667991	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6681265	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684054	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6697189	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7364663	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7367601	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7513489	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7513786	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7514828	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7517632	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7518940	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7523787	0.80[EUR][1000 genomes]
rs7555136	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7556047	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7556107	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[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	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
2	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6681169	DNTTIP2	Cis_1M	lymphoblastoid	RTeQTL
rs6681169	RP11-488P3.1	cis	Muscle Skeletal	GTEx
rs6681169	RP11-488P3.1	cis	Skin Sun Exposed Lower leg	GTEx
rs6681169	RP11-488P3.1	cis	lung	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94314000-94315600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:94314000-94316000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:94314000-94316000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:94314000-94316000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:94314000-94316000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:94314000-94316200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:94314200-94316000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:94314200-94316200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:94314200-94316200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:94314200-94316200	Weak transcription	Adipose Nuclei	Adipose
11	chr1:94314200-94316200	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:94314200-94316200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:94314200-94316200	Weak transcription	K562	blood
14	chr1:94314200-94317000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:94314200-94332800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:94314200-94334200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:94314200-94334400	Weak transcription	Brain Substantia Nigra	brain
18	chr1:94314400-94316000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:94314400-94316000	Weak transcription	Brain Anterior Caudate	brain
20	chr1:94314400-94316000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:94314400-94316200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:94314400-94316200	Weak transcription	Hela-S3	cervix
23	chr1:94314600-94316200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:94314800-94315000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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