Variant report

Variant	rs45561936
Chromosome Location	chr14:67736679-67736680
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	chr14:67729051..67730762-chr14:67734620..67736969,2	MCF-7	breast:
2	chr14:67706210..67708894-chr14:67735881..67737738,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM71D-1	chr14:67736418-67738776	NONHSAT037435

Variant related genes	Relation type
ENSG00000072415	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11539356	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103876	0.90[EUR][1000 genomes]
rs17103910	0.90[EUR][1000 genomes]
rs1813	0.95[EUR][1000 genomes]
rs3752992	0.90[EUR][1000 genomes]
rs41285536	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs45479091	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58979599	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715314	0.90[EUR][1000 genomes]
rs72715333	0.90[EUR][1000 genomes]
rs72715334	0.90[EUR][1000 genomes]
rs72715347	0.90[EUR][1000 genomes]
rs72715348	0.90[EUR][1000 genomes]
rs72715349	0.90[EUR][1000 genomes]
rs72715354	0.90[EUR][1000 genomes]
rs72715355	0.90[EUR][1000 genomes]
rs72715361	0.90[EUR][1000 genomes]
rs72715389	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72717319	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72717347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717362	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717367	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717372	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717375	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717376	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717379	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717381	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717382	0.95[EUR][1000 genomes]
rs72717383	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717385	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717386	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717387	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717389	1.00[EUR][1000 genomes]
rs72717391	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717392	1.00[EUR][1000 genomes]
rs72717393	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717397	1.00[EUR][1000 genomes]
rs72717398	1.00[EUR][1000 genomes]
rs72717399	1.00[EUR][1000 genomes]
rs72717401	1.00[EUR][1000 genomes]
rs72719106	1.00[EUR][1000 genomes]
rs72719108	1.00[EUR][1000 genomes]
rs72719110	1.00[EUR][1000 genomes]
rs72719111	1.00[EUR][1000 genomes]
rs72719115	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719116	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719118	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719122	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719125	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719127	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719128	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1040257	chr14:67634585-67762806	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs45561936	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67709000-67740600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr14:67709800-67737800	Weak transcription	Primary T cells from cord blood	blood
3	chr14:67709800-67746000	Weak transcription	Primary B cells from cord blood	blood
4	chr14:67721400-67737600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr14:67721400-67798400	Weak transcription	Hela-S3	cervix
6	chr14:67727800-67738000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:67730800-67739200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:67730800-67769800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr14:67732400-67810000	Weak transcription	Gastric	stomach
10	chr14:67732600-67739000	Weak transcription	Dnd41	blood
11	chr14:67733600-67738600	Enhancers	Fetal Stomach	stomach
12	chr14:67733600-67747800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:67733800-67740600	Weak transcription	Spleen	Spleen
14	chr14:67734200-67760200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr14:67734400-67737400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:67734400-67738000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:67734400-67738000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:67734800-67737000	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr14:67734800-67737000	Enhancers	A549	lung
20	chr14:67734800-67737200	Enhancers	Liver	Liver
21	chr14:67734800-67768600	Weak transcription	GM12878-XiMat	blood
22	chr14:67735000-67737000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:67735000-67737000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr14:67735000-67737200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:67735000-67737200	Enhancers	Fetal Muscle Leg	muscle
26	chr14:67735000-67737400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr14:67735000-67738400	Enhancers	Fetal Intestine Small	intestine
28	chr14:67735200-67737000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr14:67735200-67737800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:67735200-67738000	Enhancers	Fetal Intestine Large	intestine
31	chr14:67735200-67760200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:67735400-67736800	Weak transcription	Colonic Mucosa	Colon
33	chr14:67735400-67737000	Enhancers	NH-A	brain
34	chr14:67735400-67737200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:67735400-67737400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr14:67735400-67738000	Enhancers	Brain Substantia Nigra	brain
37	chr14:67735400-67738400	Enhancers	Fetal Heart	heart
38	chr14:67735400-67745800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:67735400-67771600	Weak transcription	NHEK	skin
40	chr14:67735400-67778600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:67735400-67798400	Weak transcription	K562	blood
42	chr14:67735600-67736800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr14:67735600-67736800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr14:67735600-67737000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr14:67735600-67737200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:67735600-67737400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr14:67735600-67738000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:67735600-67738000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:67735600-67738000	Enhancers	Brain Angular Gyrus	brain
50	chr14:67735600-67738200	Enhancers	Colon Smooth Muscle	Colon

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