Variant report

Variant	rs2375640
Chromosome Location	chr11:68221173-68221174
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:68214931..68216465-chr11:68218868..68221338,2	K562	blood:
2	chr11:68037566..68039466-chr11:68220747..68223358,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171067	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11228240	0.85[ASN][1000 genomes]
rs12286536	0.90[AMR][1000 genomes]
rs1685688	0.80[ASN][1000 genomes]
rs2186937	0.86[AMR][1000 genomes]
rs2291467	0.81[ASN][1000 genomes]
rs2375639	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3867143	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55975204	0.90[AMR][1000 genomes]
rs56154705	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56312530	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57502260	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67446678	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7104806	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7105218	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7106320	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72936524	0.86[AMR][1000 genomes]
rs72936570	0.86[AMR][1000 genomes]
rs72936599	0.83[AMR][1000 genomes]
rs7935347	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv897862	chr11:68129606-68236389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv555285	chr11:68144283-68231240	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv468618	chr11:68171013-68231240	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv897863	chr11:68186392-68251460	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	esv1792339	chr11:68199008-68299226	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	esv1803199	chr11:68199008-68299226	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	esv1842405	chr11:68199008-68299226	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	esv1800066	chr11:68217420-68228586	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2375640	CPT1A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68182800-68222200	Weak transcription	Small Intestine	intestine
2	chr11:68197600-68227000	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:68198800-68227000	Weak transcription	Brain Anterior Caudate	brain
4	chr11:68201000-68227400	Weak transcription	Fetal Brain Male	brain
5	chr11:68206800-68227200	Weak transcription	Fetal Kidney	kidney
6	chr11:68207000-68227400	Weak transcription	Brain Substantia Nigra	brain
7	chr11:68208000-68227200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:68209800-68221200	Weak transcription	NHLF	lung
9	chr11:68209800-68222200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:68209800-68222800	Weak transcription	Placenta	Placenta
11	chr11:68210000-68222600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:68210000-68223200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:68210400-68222200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:68210600-68222200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:68210600-68222600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:68210600-68222800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:68214200-68227000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:68214800-68227400	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:68215000-68222600	Weak transcription	Stomach Mucosa	stomach
20	chr11:68215200-68221200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:68215200-68227200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:68216000-68222400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:68216000-68225800	Weak transcription	K562	blood
24	chr11:68216200-68222200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:68216200-68222200	Weak transcription	HSMMtube	muscle
26	chr11:68216200-68222200	Weak transcription	NHEK	skin
27	chr11:68216200-68226800	Weak transcription	Dnd41	blood
28	chr11:68216200-68227000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:68216200-68227000	Weak transcription	GM12878-XiMat	blood
30	chr11:68216200-68227400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:68216200-68227400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:68216400-68223400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr11:68216400-68226800	Weak transcription	Hela-S3	cervix
34	chr11:68216400-68227200	Weak transcription	Fetal Thymus	thymus
35	chr11:68216400-68227200	Weak transcription	A549	lung
36	chr11:68216600-68222200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:68216600-68222400	Weak transcription	Esophagus	oesophagus
38	chr11:68216600-68222400	Weak transcription	HepG2	liver
39	chr11:68216600-68227200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:68216600-68227400	Weak transcription	Ovary	ovary
41	chr11:68217000-68222200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:68217000-68226800	Weak transcription	Right Ventricle	heart
43	chr11:68217000-68227200	Weak transcription	Left Ventricle	heart
44	chr11:68217200-68221400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:68217200-68225200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:68217400-68222200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:68217400-68222200	Weak transcription	Lung	lung
48	chr11:68217400-68227200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:68217600-68226800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:68217600-68227200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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