Variant report

Variant	rs13418741
Chromosome Location	chr2:101184337-101184338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:101177817..101179680-chr2:101183661..101186374,4	K562	blood:

Variant related genes	Relation type
ENSG00000115539	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1052117	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12469332	0.83[EUR][1000 genomes]
rs12618862	0.83[EUR][1000 genomes]
rs12622226	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1533655	0.83[EUR][1000 genomes]
rs2309848	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28560372	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28694778	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2971007	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61370232	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62155213	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6739992	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6746622	0.85[AMR][1000 genomes]
rs6747613	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6748900	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6753993	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7557603	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7560366	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7594904	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7596475	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription 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	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv961462	chr2:101183451-101186190	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101180200-101194400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:101180400-101186200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:101180400-101187200	Weak transcription	Fetal Kidney	kidney
4	chr2:101180400-101188400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:101180600-101185200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:101180600-101187800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:101180600-101192600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:101180600-101192800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:101180600-101193400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:101180600-101194400	Weak transcription	NHDF-Ad	bronchial
11	chr2:101180600-101197800	Weak transcription	Stomach Mucosa	stomach
12	chr2:101180800-101187200	Weak transcription	K562	blood
13	chr2:101180800-101195600	Weak transcription	Fetal Heart	heart
14	chr2:101180800-101195800	Strong transcription	Fetal Stomach	stomach
15	chr2:101180800-101196800	Weak transcription	NHLF	lung
16	chr2:101180800-101197000	Weak transcription	Colonic Mucosa	Colon
17	chr2:101180800-101197200	Weak transcription	Small Intestine	intestine
18	chr2:101181000-101195800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr2:101181200-101191200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:101181400-101185200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:101181400-101187400	Weak transcription	Pancreas	Pancrea
22	chr2:101181400-101187800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:101181400-101188200	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:101181400-101195800	Strong transcription	Fetal Muscle Leg	muscle
25	chr2:101181400-101196200	Weak transcription	Gastric	stomach
26	chr2:101181400-101196800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:101181600-101188200	Weak transcription	Esophagus	oesophagus
28	chr2:101181600-101196600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr2:101181600-101197200	Weak transcription	Brain Angular Gyrus	brain
30	chr2:101181800-101184400	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:101182000-101185400	Strong transcription	A549	lung
32	chr2:101182000-101194600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:101182600-101186200	Strong transcription	Brain Hippocampus Middle	brain
34	chr2:101182600-101187000	Strong transcription	Primary B cells from cord blood	blood
35	chr2:101182600-101187800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr2:101182600-101189200	Strong transcription	Brain Germinal Matrix	brain
37	chr2:101182600-101191600	Strong transcription	Dnd41	blood
38	chr2:101182600-101192800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:101182600-101193600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:101182600-101194200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:101182600-101195800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:101182600-101195800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:101182800-101184400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:101182800-101185600	Strong transcription	Primary T cells from cord blood	blood
45	chr2:101182800-101186400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:101182800-101186400	Strong transcription	Brain Anterior Caudate	brain
47	chr2:101182800-101186400	Strong transcription	Fetal Brain Female	brain
48	chr2:101182800-101187200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr2:101182800-101188400	Strong transcription	Left Ventricle	heart
50	chr2:101182800-101188600	Strong transcription	H1 Cell Line	embryonic stem cell

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