Variant report

Variant	rs71444455
Chromosome Location	chr2:30512543-30512544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30508605..30511135-chr2:30512104..30514404,2	K562	blood:
2	chr2:30452896..30455745-chr2:30510436..30513379,3	K562	blood:
3	chr2:30509284..30511862-chr2:30512040..30514428,3	K562	blood:
4	chr2:30453908..30455745-chr2:30511845..30513379,2	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

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	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35326918	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6755863	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71444456	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	chr2:30503800-30513800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:30507000-30516000	Weak transcription	Spleen	Spleen
6	chr2:30507600-30512600	Weak transcription	K562	blood
7	chr2:30507600-30516000	Weak transcription	Left Ventricle	heart
8	chr2:30507600-30516200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:30509600-30514000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:30509800-30514000	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:30510200-30514000	Enhancers	HSMMtube	muscle
12	chr2:30510600-30513200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:30511200-30513200	Weak transcription	Thymus	Thymus
14	chr2:30511200-30516200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:30511200-30516400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:30511200-30523200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:30511400-30513400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:30511600-30512800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:30511600-30515800	Weak transcription	NH-A	brain
20	chr2:30511600-30516000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:30511600-30516200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:30511800-30512600	Weak transcription	Fetal Thymus	thymus
23	chr2:30511800-30512600	Enhancers	GM12878-XiMat	blood
24	chr2:30511800-30512800	Weak transcription	HSMM	muscle
25	chr2:30511800-30513200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:30511800-30513200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:30511800-30513200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:30511800-30513400	Weak transcription	A549	lung
29	chr2:30511800-30513600	Weak transcription	NHLF	lung
30	chr2:30511800-30516000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:30511800-30516000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:30511800-30516000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:30511800-30516200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:30511800-30516200	Weak transcription	Fetal Stomach	stomach
35	chr2:30511800-30516600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:30511800-30516800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:30512000-30513400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:30512000-30514000	Enhancers	Primary B cells from cord blood	blood
39	chr2:30512000-30516000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:30512000-30516200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:30512200-30512800	Enhancers	Fetal Muscle Trunk	muscle
42	chr2:30512200-30513200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:30512200-30516000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:30512200-30516400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:30512200-30516400	Weak transcription	NHDF-Ad	bronchial
46	chr2:30512200-30516600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:30512400-30513000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:30512400-30513200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:30512400-30514000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:30512400-30515800	Weak transcription	H1 Cell Line	embryonic stem cell

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