Variant report

Variant	rs4669420
Chromosome Location	chr2:9832860-9832861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9821821..9823452-chr2:9832501..9834077,2	K562	blood:
2	chr2:9765382..9767030-chr2:9832292..9834143,2	K562	blood:
3	chr2:9831651..9835437-chr2:9836987..9840306,5	K562	blood:
4	chr2:9825009..9828236-chr2:9829697..9833325,6	K562	blood:
5	chr2:9821436..9823321-chr2:9832577..9834221,2	K562	blood:
6	chr2:9765530..9767539-chr2:9832292..9835222,2	K562	blood:
7	chr2:9823750..9829762-chr2:9830969..9835098,7	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAF1B-1	chr2:9832602-9833696	XLOC_001340

No data

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10495567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676974	1.00[CHB][hapmap]
rs13405388	1.00[ASN][1000 genomes]
rs1829980	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049431	1.00[CHB][hapmap]
rs4668635	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669422	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669423	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669425	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669465	1.00[CHB][hapmap]
rs4669466	1.00[CHB][hapmap]
rs7569448	0.83[EUR][1000 genomes]
rs908292	1.00[CHB][hapmap]

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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9821800-9833000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:9830400-9834200	Enhancers	Fetal Muscle Leg	muscle
3	chr2:9831200-9833000	Weak transcription	Spleen	Spleen
4	chr2:9831800-9835600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:9832000-9833600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:9832000-9834200	Enhancers	Fetal Muscle Trunk	muscle
7	chr2:9832200-9833000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:9832200-9833000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:9832200-9833000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:9832200-9833200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:9832200-9833200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:9832200-9834000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:9832200-9834200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr2:9832200-9834200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:9832400-9833000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:9832400-9833000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:9832400-9833200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:9832400-9833200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr2:9832400-9833200	Enhancers	Fetal Lung	lung
20	chr2:9832400-9833200	Flanking Active TSS	NHDF-Ad	bronchial
21	chr2:9832400-9833400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:9832400-9833400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:9832400-9833400	Flanking Active TSS	HSMMtube	muscle
24	chr2:9832400-9833800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:9832400-9833800	Flanking Active TSS	Hela-S3	cervix
26	chr2:9832400-9834000	Enhancers	Fetal Heart	heart
27	chr2:9832400-9834000	Enhancers	Rectal Smooth Muscle	rectum
28	chr2:9832400-9834000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr2:9832400-9834200	Enhancers	Left Ventricle	heart
30	chr2:9832400-9834200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr2:9832600-9833000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:9832600-9833000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:9832600-9833000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:9832600-9833000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr2:9832600-9833200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:9832600-9833200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:9832600-9833200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:9832600-9833200	Enhancers	Primary hematopoietic stem cells	blood
39	chr2:9832600-9833200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:9832600-9833200	Enhancers	Esophagus	oesophagus
41	chr2:9832600-9833200	Enhancers	Fetal Intestine Small	intestine
42	chr2:9832600-9833200	Enhancers	Right Atrium	heart
43	chr2:9832600-9833200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr2:9832600-9833200	Flanking Active TSS	HSMM	muscle
45	chr2:9832600-9833400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:9832600-9833400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr2:9832600-9833400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:9832600-9833400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr2:9832600-9833400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:9832600-9833400	Flanking Active TSS	Adipose Nuclei	Adipose

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