Variant report

Variant	rs2290949
Chromosome Location	chr16:81413389-81413390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81406782..81409533-chr16:81410750..81415931,4	K562	blood:
2	chr16:81411383..81414632-chr16:81425808..81428318,4	MCF-7	breast:
3	chr16:81402764..81406733-chr16:81409051..81413423,3	K562	blood:
4	chr16:81409982..81413670-chr16:81414350..81417251,3	K562	blood:
5	chr16:81411221..81413980-chr16:81432249..81433979,2	MCF-7	breast:
6	chr16:81384947..81387617-chr16:81411669..81414559,2	K562	blood:
7	chr16:81409982..81414172-chr16:81414350..81416327,5	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16955203	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs16955210	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs16955221	0.86[GIH][hapmap]
rs16955238	0.86[GIH][hapmap]
rs41484544	0.86[GIH][hapmap]
rs4386128	0.96[ASN][1000 genomes]
rs7191094	0.88[AFR][1000 genomes]
rs7200991	0.86[GIH][hapmap]
rs8057691	0.82[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81382400-81418400	Weak transcription	Small Intestine	intestine
2	chr16:81384200-81434600	Weak transcription	NHLF	lung
3	chr16:81384200-81437400	Weak transcription	Fetal Brain Male	brain
4	chr16:81385600-81418200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:81386400-81424200	Weak transcription	Psoas Muscle	Psoas
6	chr16:81387000-81428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:81387600-81415200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:81391200-81417600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr16:81392000-81428400	Weak transcription	Fetal Heart	heart
10	chr16:81397400-81426400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr16:81399000-81417400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:81399200-81431000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr16:81399800-81414000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr16:81400000-81427200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:81400000-81434600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr16:81402000-81415000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr16:81402200-81418000	Weak transcription	Brain Germinal Matrix	brain
18	chr16:81404400-81417200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr16:81405200-81418400	Weak transcription	Right Atrium	heart
20	chr16:81406600-81423800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr16:81409000-81413400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr16:81409400-81415400	Strong transcription	Dnd41	blood
23	chr16:81409400-81415800	Strong transcription	Primary T cells from cord blood	blood
24	chr16:81409600-81415400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr16:81409600-81415600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr16:81409800-81415800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr16:81410400-81413400	Strong transcription	Primary hematopoietic stem cells	blood
28	chr16:81410400-81413400	Strong transcription	Left Ventricle	heart
29	chr16:81410400-81414000	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr16:81410600-81413400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr16:81410600-81413400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:81410600-81413400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr16:81411000-81415200	Strong transcription	Primary B cells from cord blood	blood
34	chr16:81411200-81413400	Strong transcription	HMEC	breast
35	chr16:81411200-81415800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr16:81411200-81424400	Weak transcription	Colonic Mucosa	Colon
37	chr16:81411200-81428400	Weak transcription	GM12878-XiMat	blood
38	chr16:81411400-81414800	Weak transcription	Pancreas	Pancrea
39	chr16:81411400-81416400	Weak transcription	HUVEC	blood vessel
40	chr16:81411400-81417000	Weak transcription	Ovary	ovary
41	chr16:81411400-81418200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr16:81411400-81418400	Weak transcription	Lung	lung
43	chr16:81411400-81419200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr16:81411400-81421600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr16:81411400-81422600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr16:81411400-81428000	Weak transcription	Spleen	Spleen
47	chr16:81411400-81428200	Weak transcription	Stomach Mucosa	stomach
48	chr16:81411400-81429200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr16:81411400-81429600	Weak transcription	HSMM	muscle
50	chr16:81411600-81417400	Weak transcription	Brain Inferior Temporal Lobe	brain

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