Variant report

Variant	rs2278183
Chromosome Location	chr2:64557654-64557655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64557634..64558668-chr2:64714284..64715769,8	K562	blood:
2	chr2:64549497..64551574-chr2:64555281..64557791,2	K562	blood:
3	chr2:64557054..64559037-chr2:64562758..64565482,2	MCF-7	breast:
4	chr2:64554284..64556297-chr2:64556572..64559001,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PELI1-4	chr2:64557620-64557801	ENSG00000238012

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10203643	0.87[CHB][hapmap]
rs11683866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1365474	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1365475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1365476	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1426698	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1426699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1426701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1426702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1426703	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2059630	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2278184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4671562	0.82[ASN][1000 genomes]
rs4671563	0.87[CHB][hapmap]
rs6714101	0.80[ASN][1000 genomes]
rs6731818	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7601758	0.84[ASN][1000 genomes]
rs7601803	0.84[ASN][1000 genomes]
rs890478	0.82[CEU][hapmap];0.86[JPT][hapmap]
rs919122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs919123	0.80[ASN][1000 genomes]
rs919124	0.80[ASN][1000 genomes]
rs9917300	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64552800-64560000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:64553400-64558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:64554400-64557800	Enhancers	Fetal Muscle Leg	muscle
4	chr2:64554400-64558400	Enhancers	Stomach Mucosa	stomach
5	chr2:64554600-64557800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:64554600-64557800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:64554600-64559400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:64554800-64565600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:64555000-64558000	Weak transcription	Right Ventricle	heart
10	chr2:64555200-64557800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:64555200-64558000	Enhancers	Brain Germinal Matrix	brain
12	chr2:64555200-64558000	Weak transcription	Brain Substantia Nigra	brain
13	chr2:64555400-64557800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:64555400-64557800	Enhancers	Brain Anterior Caudate	brain
15	chr2:64555400-64558400	Enhancers	Primary T cells from cord blood	blood
16	chr2:64555400-64558400	Weak transcription	Lung	lung
17	chr2:64555600-64557800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:64555600-64557800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:64555600-64557800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:64555600-64557800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:64555600-64558000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:64555600-64558000	Weak transcription	Thymus	Thymus
23	chr2:64555600-64558000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr2:64555600-64558200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:64555600-64558400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:64555600-64558800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr2:64555800-64557800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:64555800-64557800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:64555800-64557800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:64555800-64557800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr2:64555800-64557800	Weak transcription	Fetal Heart	heart
32	chr2:64555800-64558000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr2:64555800-64558000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:64555800-64558000	Weak transcription	Brain Angular Gyrus	brain
35	chr2:64555800-64558000	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:64555800-64558000	Enhancers	GM12878-XiMat	blood
37	chr2:64555800-64558200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:64556000-64557800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:64556000-64557800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:64556200-64557800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:64556200-64557800	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:64556200-64557800	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr2:64556200-64558200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:64556200-64558400	Weak transcription	Fetal Brain Female	brain
45	chr2:64556400-64557800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:64556400-64558000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:64556400-64558200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:64556400-64558600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:64556400-64559400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr2:64556600-64557800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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