Variant report

Variant	rs16987356
Chromosome Location	chr22:29673869-29673870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29673848..29675716-chr22:29690048..29692295,2	K562	blood:
2	chr22:29672152..29674020-chr22:29675666..29677971,2	K562	blood:

Variant related genes	Relation type
ENSG00000182944	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16987345	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs16987352	1.00[AFR][1000 genomes]
rs16987353	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs16987361	0.81[AFR][1000 genomes]
rs16987366	1.00[YRI][hapmap]
rs9613877	1.00[YRI][hapmap]

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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv829155	chr22:29664396-29724001	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29666800-29674000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr22:29667000-29675400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr22:29667200-29676200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr22:29667200-29695000	Strong transcription	Placenta	Placenta
5	chr22:29667400-29674200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:29667600-29674200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr22:29667600-29674400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
8	chr22:29667600-29697800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr22:29667800-29674000	Weak transcription	Psoas Muscle	Psoas
10	chr22:29667800-29675200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr22:29667800-29697000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:29667800-29697200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:29667800-29697800	Strong transcription	Fetal Thymus	thymus
14	chr22:29668000-29674400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr22:29668000-29697000	Strong transcription	NHEK	skin
16	chr22:29668000-29697200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr22:29668000-29697200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr22:29668000-29697600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr22:29668000-29697600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr22:29668000-29698000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:29668000-29698200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr22:29668200-29675400	Weak transcription	Right Atrium	heart
23	chr22:29668200-29677000	Strong transcription	K562	blood
24	chr22:29668200-29697000	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr22:29668200-29697400	Strong transcription	HMEC	breast
26	chr22:29668200-29697600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr22:29668200-29697800	Strong transcription	Fetal Muscle Leg	muscle
28	chr22:29668200-29698000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:29668200-29698400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:29668200-29698400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr22:29668400-29674000	Genic enhancers	Brain Angular Gyrus	brain
32	chr22:29668400-29697200	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr22:29668400-29698000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr22:29668600-29674200	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr22:29668600-29676600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr22:29668600-29677200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr22:29668600-29678800	Strong transcription	Primary hematopoietic stem cells	blood
38	chr22:29668600-29681200	Strong transcription	HSMMtube	muscle
39	chr22:29668600-29689400	Strong transcription	Primary B cells from cord blood	blood
40	chr22:29668600-29697600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr22:29668600-29698000	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr22:29668800-29676400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
43	chr22:29668800-29697000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr22:29668800-29697000	Strong transcription	Fetal Lung	lung
45	chr22:29668800-29697200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr22:29668800-29697200	Strong transcription	Osteobl	bone
47	chr22:29668800-29697800	Strong transcription	HSMM	muscle
48	chr22:29669000-29696000	Strong transcription	HUVEC	blood vessel
49	chr22:29669000-29697200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr22:29669000-29697200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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