Variant report

Variant	rs4671220
Chromosome Location	chr2:54733240-54733241
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54727594..54730058-chr2:54731900..54733434,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4233952	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6545420	0.81[ASN][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
rs4671220	EML6	cis	Thyroid	GTEx

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54712400-54737000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:54719000-54751800	Weak transcription	Aorta	Aorta
3	chr2:54725200-54737600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:54726400-54740000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:54726400-54740000	Weak transcription	Pancreas	Pancrea
6	chr2:54727600-54737800	Weak transcription	A549	lung
7	chr2:54728000-54737400	Weak transcription	HSMM	muscle
8	chr2:54729000-54733400	Weak transcription	Gastric	stomach
9	chr2:54730000-54739400	Weak transcription	Fetal Brain Female	brain
10	chr2:54730200-54735400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:54730200-54736800	Weak transcription	Placenta	Placenta
12	chr2:54730400-54736800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:54730400-54747600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:54730600-54735600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:54730600-54736600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:54730600-54739000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:54730600-54739200	Weak transcription	Spleen	Spleen
18	chr2:54730600-54739400	Weak transcription	HepG2	liver
19	chr2:54730600-54740000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:54730800-54734600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:54730800-54736800	Weak transcription	Fetal Brain Male	brain
22	chr2:54730800-54738600	Enhancers	Fetal Lung	lung
23	chr2:54731200-54737400	Weak transcription	Fetal Stomach	stomach
24	chr2:54731400-54736200	Weak transcription	Psoas Muscle	Psoas
25	chr2:54731400-54736600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:54731600-54735800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:54731800-54735200	Weak transcription	Right Atrium	heart
28	chr2:54732400-54733600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:54732400-54733600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:54732400-54736600	Weak transcription	HSMMtube	muscle
31	chr2:54732400-54737400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:54732600-54733600	Enhancers	Left Ventricle	heart
33	chr2:54732600-54733600	Enhancers	Lung	lung
34	chr2:54732600-54733600	Enhancers	Ovary	ovary
35	chr2:54732600-54733600	Enhancers	Right Ventricle	heart
36	chr2:54732600-54734600	Weak transcription	Fetal Heart	heart
37	chr2:54732600-54735400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:54732600-54737400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:54732600-54738200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:54732800-54733400	Enhancers	Fetal Muscle Trunk	muscle
41	chr2:54732800-54733800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:54732800-54735600	Weak transcription	Brain Anterior Caudate	brain
43	chr2:54732800-54735600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:54732800-54735600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:54732800-54735800	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:54732800-54735800	Weak transcription	Brain Substantia Nigra	brain
47	chr2:54732800-54736800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:54732800-54736800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:54732800-54736800	Weak transcription	Liver	Liver
50	chr2:54732800-54736800	Weak transcription	Colon Smooth Muscle	Colon

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