Variant report

Variant	rs377704
Chromosome Location	chr6:13280019-13280020
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1512414	0.87[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1550526	0.83[CEU][hapmap]
rs2002961	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs202030	0.83[CEU][hapmap];0.80[ASN][1000 genomes]
rs202034	0.80[ASN][1000 genomes]
rs202038	0.83[CEU][hapmap];0.80[ASN][1000 genomes]
rs202040	0.83[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs202042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs202044	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs202045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs202046	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs202051	0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs202053	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs202070	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs202071	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs202072	1.00[CEU][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs202073	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs202077	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2119485	0.87[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs34148691	0.82[ASN][1000 genomes]
rs375661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3817735	0.87[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs384730	0.85[YRI][hapmap]
rs3857594	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs405078	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];0.95[TSI][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]
rs412787	0.82[LWK][hapmap];0.88[MKK][hapmap];0.86[YRI][hapmap]
rs413120	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs417048	0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs421057	0.83[AFR][1000 genomes]
rs441213	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs442614	0.86[LWK][hapmap];0.88[MKK][hapmap];0.86[YRI][hapmap]
rs445591	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs445714	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs454563	0.83[CEU][hapmap]
rs4602719	0.83[CEU][hapmap]
rs475165	0.83[ASN][1000 genomes]
rs495895	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909879	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs6922200	0.83[ASN][1000 genomes]
rs6923757	0.83[ASN][1000 genomes]
rs6924855	0.83[ASN][1000 genomes]
rs7755309	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs8541	0.83[CEU][hapmap]
rs878700	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs909508	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs9296641	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs9296642	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs9349548	0.83[ASN][1000 genomes]
rs9349549	0.80[ASN][1000 genomes]
rs9369976	0.83[ASN][1000 genomes]
rs9369978	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs9369979	0.83[ASN][1000 genomes]
rs9473908	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs9473909	0.95[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS 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	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs377704	EDN1	cis	parietal	SCAN
rs377704	IL18R1	trans	lymphoblastoid	seeQTL

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13249800-13287000	Weak transcription	Fetal Brain Male	brain
2	chr6:13267400-13280400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:13267400-13283600	Weak transcription	Fetal Brain Female	brain
4	chr6:13268000-13283600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:13269200-13282000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:13269400-13284800	Weak transcription	Right Atrium	heart
7	chr6:13269600-13286600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:13269600-13286600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:13270200-13291600	Weak transcription	HSMM	muscle
10	chr6:13270400-13282000	Weak transcription	Ovary	ovary
11	chr6:13270400-13285400	Weak transcription	Fetal Heart	heart
12	chr6:13270600-13281000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:13270600-13283600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:13271600-13287200	Weak transcription	Fetal Lung	lung
15	chr6:13273000-13283600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:13273400-13286800	Weak transcription	Liver	Liver
17	chr6:13273800-13280400	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:13273800-13291400	Weak transcription	Psoas Muscle	Psoas
19	chr6:13274000-13282600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr6:13274000-13283800	Weak transcription	Brain Substantia Nigra	brain
21	chr6:13274400-13286800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:13274400-13287200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:13274400-13289200	Weak transcription	HSMMtube	muscle
24	chr6:13274600-13286200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:13274600-13286800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr6:13274600-13302000	Weak transcription	Small Intestine	intestine
27	chr6:13274800-13286600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr6:13274800-13287000	Weak transcription	Thymus	Thymus
29	chr6:13274800-13292800	Weak transcription	Colon Smooth Muscle	Colon
30	chr6:13275000-13280400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr6:13275000-13282800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:13275000-13285000	Weak transcription	Fetal Intestine Small	intestine
33	chr6:13275000-13286800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:13275000-13287000	Weak transcription	Gastric	stomach
35	chr6:13275200-13280200	Weak transcription	Primary T cells from cord blood	blood
36	chr6:13275200-13286400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:13275600-13280200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:13275600-13281000	Weak transcription	Placenta	Placenta
39	chr6:13275600-13286600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:13275600-13287000	Weak transcription	Adipose Nuclei	Adipose
41	chr6:13275600-13291600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr6:13275800-13282200	Weak transcription	Brain Hippocampus Middle	brain
43	chr6:13276000-13282800	Weak transcription	Right Ventricle	heart
44	chr6:13276000-13287400	Genic enhancers	Primary B cells from peripheral blood	blood
45	chr6:13276200-13281400	Genic enhancers	Primary B cells from cord blood	blood
46	chr6:13276600-13281000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:13277200-13281600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:13277200-13282000	Strong transcription	Left Ventricle	heart
49	chr6:13277400-13281600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr6:13277400-13286200	Strong transcription	Stomach Smooth Muscle	stomach

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