Variant report

Variant	rs2162380
Chromosome Location	chr2:64556555-64556556
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	chr2:64549497..64551574-chr2:64555281..64557791,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10182618	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10203643	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10865345	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11673882	0.88[ASN][1000 genomes]
rs11682772	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1974976	0.82[ASN][1000 genomes]
rs2278184	0.84[ASN][1000 genomes]
rs4343453	0.80[EUR][1000 genomes]
rs4671086	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4671561	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671562	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4671563	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6724171	0.80[EUR][1000 genomes]
rs6737527	0.80[EUR][1000 genomes]
rs7565077	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7585084	0.88[ASN][1000 genomes]
rs919126	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005492	chr2:64452441-64588323	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64552800-64560000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:64553200-64557000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:64553400-64558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:64554400-64557800	Enhancers	Fetal Muscle Leg	muscle
5	chr2:64554400-64558400	Enhancers	Stomach Mucosa	stomach
6	chr2:64554600-64556600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:64554600-64557800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:64554600-64557800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:64554600-64559400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:64554800-64557000	Weak transcription	Esophagus	oesophagus
11	chr2:64554800-64557400	Weak transcription	Fetal Kidney	kidney
12	chr2:64554800-64565600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:64555000-64558000	Weak transcription	Right Ventricle	heart
14	chr2:64555200-64556600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:64555200-64556600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:64555200-64556800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:64555200-64557000	Weak transcription	Osteobl	bone
18	chr2:64555200-64557200	Weak transcription	Aorta	Aorta
19	chr2:64555200-64557400	Enhancers	Adipose Nuclei	Adipose
20	chr2:64555200-64557400	Enhancers	Left Ventricle	heart
21	chr2:64555200-64557800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:64555200-64558000	Enhancers	Brain Germinal Matrix	brain
23	chr2:64555200-64558000	Weak transcription	Brain Substantia Nigra	brain
24	chr2:64555400-64557000	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:64555400-64557000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:64555400-64557600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:64555400-64557800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:64555400-64557800	Enhancers	Brain Anterior Caudate	brain
29	chr2:64555400-64558400	Enhancers	Primary T cells from cord blood	blood
30	chr2:64555400-64558400	Weak transcription	Lung	lung
31	chr2:64555600-64556800	Weak transcription	Small Intestine	intestine
32	chr2:64555600-64556800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:64555600-64557000	Weak transcription	Fetal Lung	lung
34	chr2:64555600-64557200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:64555600-64557200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:64555600-64557200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:64555600-64557800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:64555600-64557800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:64555600-64557800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:64555600-64557800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:64555600-64558000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:64555600-64558000	Weak transcription	Thymus	Thymus
43	chr2:64555600-64558000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:64555600-64558200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr2:64555600-64558400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:64555600-64558800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr2:64555800-64556800	Weak transcription	Placenta	Placenta
48	chr2:64555800-64556800	Weak transcription	Fetal Stomach	stomach
49	chr2:64555800-64557000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:64555800-64557000	Weak transcription	Fetal Thymus	thymus

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