Variant report

Variant	rs6847815
Chromosome Location	chr4:76909236-76909237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76889181..76890781-chr4:76908740..76910995,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10007919	0.82[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10009947	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10021434	0.84[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10029157	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10031733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10031983	0.82[CEU][hapmap];0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10518143	0.88[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12374321	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12374370	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12649185	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13111494	0.82[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap]
rs13112512	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13118503	0.94[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13129896	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13130917	0.83[CEU][hapmap];0.81[CHB][hapmap]
rs17001247	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1857821	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2242470	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2271528	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2276886	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28375800	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28422144	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28451731	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28532601	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28535831	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28588114	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28595360	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28647886	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2869462	0.88[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34630680	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34740469	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733238	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3796484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4241577	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4429750	0.84[EUR][1000 genomes]
rs4859567	1.00[CEU][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs4859570	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4859571	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4859572	0.89[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4859573	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4859577	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859578	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859580	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4859609	0.87[GIH][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap]
rs55876513	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66498356	0.87[ASN][1000 genomes]
rs884004	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs884304	0.81[EUR][1000 genomes]
rs9994667	0.82[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]

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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs6847815	FAM47E	cis	cerebellum	SCAN
rs6847815	CDKL2	cis	parietal	SCAN
rs6847815	NAAA	cis	Esophagus Muscularis	GTEx
rs6847815	NAAA	cis	Esophagus Mucosa	GTEx
rs6847815	RCHY1	cis	cerebellum	SCAN
rs6847815	NAAA	cis	parietal	SCAN
rs6847815	NAAA	cis	cerebellum	SCAN
rs6847815	NAAA	cis	Whole Blood	GTEx
rs6847815	CXCL10	Cis_1M	lymphoblastoid	RTeQTL
rs6847815	NAAA	cis	Muscle Skeletal	GTEx
rs6847815	CXCL10	cis	lymphoblastoid	seeQTL
rs6847815	ASAHL	Cis_1M	lymphoblastoid	RTeQTL
rs6847815	NAAA	cis	lymphoblastoid	seeQTL
rs6847815	NAAA	cis	Artery Aorta	GTEx
rs6847815	ASAHL	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76887200-76911000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:76887800-76909600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:76894200-76910200	Weak transcription	Small Intestine	intestine
4	chr4:76895400-76910400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:76895800-76910200	Weak transcription	Spleen	Spleen
6	chr4:76897600-76910000	Weak transcription	Stomach Mucosa	stomach
7	chr4:76899200-76910200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:76899200-76910400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:76899400-76910400	Weak transcription	Fetal Lung	lung
10	chr4:76899800-76910000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:76900200-76911000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:76900400-76910200	Weak transcription	Ovary	ovary
13	chr4:76902000-76910400	Weak transcription	Brain Germinal Matrix	brain
14	chr4:76902000-76911000	Weak transcription	Aorta	Aorta
15	chr4:76902200-76909800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:76902200-76910200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:76902200-76910800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:76902200-76911000	Weak transcription	Gastric	stomach
19	chr4:76902200-76911000	Weak transcription	Pancreas	Pancrea
20	chr4:76902200-76911200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:76902200-76911200	Weak transcription	Esophagus	oesophagus
22	chr4:76902400-76910200	Weak transcription	Colonic Mucosa	Colon
23	chr4:76902400-76910200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:76902400-76910200	Weak transcription	HUVEC	blood vessel
25	chr4:76902400-76910600	Weak transcription	Fetal Kidney	kidney
26	chr4:76902600-76909800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:76902600-76910000	Weak transcription	Thymus	Thymus
28	chr4:76902600-76910800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr4:76902600-76911000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr4:76902800-76910000	Weak transcription	Brain Angular Gyrus	brain
31	chr4:76902800-76910200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:76902800-76910200	Weak transcription	Brain Substantia Nigra	brain
33	chr4:76902800-76910200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:76902800-76910400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:76902800-76910400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:76902800-76910600	Weak transcription	Fetal Brain Male	brain
37	chr4:76903000-76910000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:76903000-76910000	Weak transcription	Brain Anterior Caudate	brain
39	chr4:76903000-76910000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr4:76903000-76910000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr4:76903000-76910200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:76903000-76910200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr4:76903200-76909600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:76903200-76909800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:76903200-76909800	Weak transcription	Hela-S3	cervix
46	chr4:76903400-76910000	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:76903400-76910200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:76903400-76910400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr4:76903600-76910000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:76903600-76910200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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