Variant report

Variant	rs34754573
Chromosome Location	chr6:37960661-37960662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37948324..37950868-chr6:37959290..37962178,2	MCF-7	breast:
2	chr6:37959253..37960891-chr6:37963216..37966169,3	K562	blood:
3	chr6:37956692..37960891-chr6:37962737..37966006,6	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs13195333	0.88[AFR][1000 genomes]
rs13198459	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13200310	0.87[AMR][1000 genomes]
rs13203867	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13210087	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13210967	0.87[AMR][1000 genomes]
rs13212369	0.84[EUR][1000 genomes]
rs13217630	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13219500	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs16890301	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16890365	0.82[AFR][1000 genomes]
rs2395689	0.82[EUR][1000 genomes]
rs2645104	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2645115	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2645118	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2645121	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2645123	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2645126	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28360531	0.82[AFR][1000 genomes]
rs28385568	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2842498	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2842524	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs33997846	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs34038972	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34123707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34406273	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34449592	0.93[AFR][1000 genomes]
rs34618835	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs34634043	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35051126	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35202194	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35379375	0.87[AMR][1000 genomes]
rs35465740	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35549511	0.82[AFR][1000 genomes]
rs35559973	0.82[AFR][1000 genomes]
rs35575717	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35597126	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35653300	0.85[AFR][1000 genomes]
rs35815938	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs35955196	0.81[AFR][1000 genomes]
rs36069529	0.82[AFR][1000 genomes]
rs4394213	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs55943813	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56678832	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6458037	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6908761	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6916057	0.84[EUR][1000 genomes]
rs6916535	0.80[ASN][1000 genomes]
rs6917208	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6917736	0.93[AFR][1000 genomes]
rs6919884	0.86[AFR][1000 genomes]
rs6923132	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6923254	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6923665	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925563	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6940491	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71569397	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71569399	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71569402	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71571304	0.84[EUR][1000 genomes]
rs7740636	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7757560	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7776025	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv602956	chr6:37909084-37986489	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2761037	chr6:37930659-37966762	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34754573	ELOVL2	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37949800-37962000	Weak transcription	Small Intestine	intestine
2	chr6:37950000-37963600	Weak transcription	Spleen	Spleen
3	chr6:37952200-37961400	Enhancers	Liver	Liver
4	chr6:37953400-37962600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:37953400-37962600	Weak transcription	Lung	lung
6	chr6:37953400-37965200	Weak transcription	Esophagus	oesophagus
7	chr6:37954200-37963000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:37955400-37960800	Enhancers	Rectal Smooth Muscle	rectum
9	chr6:37955600-37963800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:37956200-37961800	Weak transcription	Fetal Brain Female	brain
11	chr6:37956200-37962000	Weak transcription	Fetal Stomach	stomach
12	chr6:37956200-37965400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:37956200-37978800	Weak transcription	Primary T cells from cord blood	blood
14	chr6:37956400-37961400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:37956600-37961800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:37956600-37961800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr6:37956600-37962000	Weak transcription	Brain Angular Gyrus	brain
18	chr6:37956600-37962000	Weak transcription	Fetal Kidney	kidney
19	chr6:37956600-37967200	Weak transcription	Primary B cells from cord blood	blood
20	chr6:37956800-37961600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:37956800-37962000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:37957600-37961800	Weak transcription	Brain Germinal Matrix	brain
23	chr6:37957600-37962200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:37957600-37962400	Weak transcription	Pancreas	Pancrea
25	chr6:37957800-37961600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr6:37957800-37962200	Weak transcription	Fetal Brain Male	brain
27	chr6:37957800-37976400	Weak transcription	Aorta	Aorta
28	chr6:37958000-37961600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:37958000-37961800	Weak transcription	Fetal Lung	lung
30	chr6:37958800-37961600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:37958800-37961800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:37958800-37961800	Weak transcription	Brain Anterior Caudate	brain
33	chr6:37958800-37963200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr6:37959000-37960800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:37959000-37961200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:37959000-37961800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:37959000-37961800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr6:37959000-37962000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:37959400-37961200	Weak transcription	Ovary	ovary
40	chr6:37959400-37961200	Weak transcription	Psoas Muscle	Psoas
41	chr6:37959400-37961600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:37959400-37962000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:37959400-37962000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:37959400-37962000	Weak transcription	Right Atrium	heart
45	chr6:37959400-37962600	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:37959400-37975600	Weak transcription	Left Ventricle	heart
47	chr6:37959600-37961400	Weak transcription	Osteobl	bone
48	chr6:37959600-37961600	Weak transcription	NHEK	skin
49	chr6:37959600-37961800	Weak transcription	HepG2	liver
50	chr6:37959600-37961800	Weak transcription	NH-A	brain

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