Variant report

Variant	rs71444456
Chromosome Location	chr2:30515917-30515918
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30505644..30508835-chr2:30513800..30516199,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALK-2	chr2:30515650-30516696	XLOC_002040
2	lnc-ALK-2	chr2:30515650-30516696	XLOC_002040

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11677980	1.00[ASN][1000 genomes]
rs11678328	1.00[ASN][1000 genomes]
rs11684717	1.00[ASN][1000 genomes]
rs11690407	1.00[ASN][1000 genomes]
rs11694633	1.00[ASN][1000 genomes]
rs13007792	1.00[ASN][1000 genomes]
rs13022372	1.00[ASN][1000 genomes]
rs1973573	0.88[EUR][1000 genomes]
rs34376141	0.90[AMR][1000 genomes]
rs35326918	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35996628	0.83[AMR][1000 genomes]
rs6755863	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71444455	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789617	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30487200-30517800	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:30496600-30524200	Weak transcription	Right Atrium	heart
3	chr2:30497800-30516400	Weak transcription	Gastric	stomach
4	chr2:30507000-30516000	Weak transcription	Spleen	Spleen
5	chr2:30507600-30516000	Weak transcription	Left Ventricle	heart
6	chr2:30507600-30516200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:30511200-30516200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:30511200-30516400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr2:30511200-30523200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:30511600-30516000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:30511600-30516200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:30511800-30516000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:30511800-30516000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:30511800-30516000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:30511800-30516200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:30511800-30516200	Weak transcription	Fetal Stomach	stomach
17	chr2:30511800-30516600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:30511800-30516800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:30512000-30516000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:30512000-30516200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:30512200-30516000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:30512200-30516400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:30512200-30516400	Weak transcription	NHDF-Ad	bronchial
24	chr2:30512200-30516600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:30512400-30516000	Weak transcription	Fetal Lung	lung
26	chr2:30513800-30516000	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:30513800-30516200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:30513800-30516400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:30513800-30522800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:30513800-30523400	Weak transcription	Thymus	Thymus
31	chr2:30514000-30516000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:30514000-30516000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:30514000-30516000	Weak transcription	Fetal Heart	heart
34	chr2:30514000-30516000	Weak transcription	Fetal Thymus	thymus
35	chr2:30514000-30516000	Weak transcription	GM12878-XiMat	blood
36	chr2:30514000-30516000	Weak transcription	NHLF	lung
37	chr2:30514000-30522800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:30514200-30516000	Weak transcription	Stomach Mucosa	stomach
39	chr2:30514200-30516200	Weak transcription	K562	blood
40	chr2:30514800-30517400	Enhancers	HSMM	muscle
41	chr2:30515000-30517000	Enhancers	Primary B cells from cord blood	blood
42	chr2:30515000-30518000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:30515000-30518200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:30515200-30516000	Enhancers	A549	lung
45	chr2:30515200-30516200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:30515200-30517200	Enhancers	HSMMtube	muscle
47	chr2:30515400-30517000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:30515800-30516600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr2:30515800-30516800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr2:30515800-30517000	Enhancers	NH-A	brain

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