Variant report

Variant	rs6742607
Chromosome Location	chr2:54725824-54725825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54716343..54718706-chr2:54724549..54726688,2	MCF-7	breast:
2	chr2:54719586..54722384-chr2:54724826..54727546,2	K562	blood:
3	chr2:54715431..54717877-chr2:54722811..54726356,3	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11892788	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12104998	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12105792	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12467581	0.80[EUR][1000 genomes]
rs12468469	0.81[EUR][1000 genomes]
rs12617036	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12713260	0.81[EUR][1000 genomes]
rs13016942	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1367295	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1541854	0.81[EUR][1000 genomes]
rs17344072	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17521078	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1864493	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4233952	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4444573	0.81[EUR][1000 genomes]
rs4455199	0.82[EUR][1000 genomes]
rs4519562	0.80[EUR][1000 genomes]
rs4592889	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4671221	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4671222	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671225	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4671226	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4671945	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4671946	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4671947	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4671949	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4671951	0.87[EUR][1000 genomes]
rs4671955	0.83[EUR][1000 genomes]
rs4671956	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4990319	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6545411	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6545413	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6545414	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6545415	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6545418	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6545419	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6545427	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6545429	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6545434	0.81[EUR][1000 genomes]
rs6704769	0.84[EUR][1000 genomes]
rs6706372	0.81[EUR][1000 genomes]
rs6724590	0.84[EUR][1000 genomes]
rs6729826	0.86[EUR][1000 genomes]
rs6731661	0.81[EUR][1000 genomes]
rs6732949	0.81[EUR][1000 genomes]
rs6734658	0.81[EUR][1000 genomes]
rs6746016	0.85[ASN][1000 genomes]
rs6746306	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6748816	0.80[EUR][1000 genomes]
rs6761369	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6761398	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7558950	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7563706	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7589236	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7607451	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874150	chr2:54684557-54755229	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv874151	chr2:54684557-54761329	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1002611	chr2:54718022-54752839	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv518406	chr2:54723271-54761329	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6742607	EML6	cis	Thyroid	GTEx

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54710800-54729600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:54711600-54726000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:54711800-54726200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:54712400-54727800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:54712400-54729400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:54712400-54737000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:54712600-54727800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:54715600-54728200	Weak transcription	Brain Germinal Matrix	brain
9	chr2:54716000-54730000	Weak transcription	NH-A	brain
10	chr2:54716200-54728600	Weak transcription	Fetal Brain Female	brain
11	chr2:54717000-54729800	Weak transcription	Fetal Brain Male	brain
12	chr2:54717800-54732800	Enhancers	Brain Anterior Caudate	brain
13	chr2:54718200-54726800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:54718200-54727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:54718600-54727000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:54719000-54751800	Weak transcription	Aorta	Aorta
17	chr2:54719400-54726000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:54719800-54728000	Weak transcription	Fetal Intestine Small	intestine
19	chr2:54719800-54728200	Weak transcription	Gastric	stomach
20	chr2:54721200-54726200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:54721600-54726200	Weak transcription	NHLF	lung
22	chr2:54722000-54726600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:54722600-54726400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:54722600-54728200	Weak transcription	Spleen	Spleen
25	chr2:54723800-54727200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:54723800-54727200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:54723800-54732600	Enhancers	Fetal Heart	heart
28	chr2:54723800-54733000	Enhancers	Adipose Nuclei	Adipose
29	chr2:54724000-54726200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:54724000-54726400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:54724000-54726800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:54724000-54728600	Enhancers	HepG2	liver
33	chr2:54724000-54731400	Enhancers	Colon Smooth Muscle	Colon
34	chr2:54724200-54726400	Enhancers	Right Ventricle	heart
35	chr2:54724200-54726800	Enhancers	Fetal Stomach	stomach
36	chr2:54724200-54729600	Enhancers	Fetal Muscle Leg	muscle
37	chr2:54724200-54732800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:54724200-54732800	Enhancers	Brain Cingulate Gyrus	brain
39	chr2:54724400-54727000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:54724400-54732800	Enhancers	Brain Hippocampus Middle	brain
41	chr2:54724600-54726000	Enhancers	Liver	Liver
42	chr2:54724600-54726200	Genic enhancers	Fetal Lung	lung
43	chr2:54724600-54726400	Enhancers	Left Ventricle	heart
44	chr2:54724600-54726600	Enhancers	Fetal Kidney	kidney
45	chr2:54724600-54726800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:54724600-54732800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:54724800-54726400	Enhancers	Right Atrium	heart
48	chr2:54724800-54726800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr2:54724800-54728600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:54724800-54731400	Enhancers	Brain Substantia Nigra	brain

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