Variant report

Variant	rs16984988
Chromosome Location	chr22:21977671-21977672
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:21804862..21806367-chr22:21977646..21980199,2	K562	blood:
2	chr22:21976082..21978411-chr22:22004767..22007666,2	MCF-7	breast:
3	chr22:21976586..21979474-chr22:22290804..22292395,2	K562	blood:
4	chr13:91999778..92002355-chr22:21977509..21981284,3	K562	blood:
5	chr22:21802884..21804534-chr22:21977171..21979118,2	K562	blood:
6	chr22:21800442..21802407-chr22:21977326..21979370,2	K562	blood:
7	chr22:21799659..21804135-chr22:21977326..21984068,6	K562	blood:
8	chr22:21976812..21979275-chr22:22008557..22011391,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212102	Chromatin interaction
ENSG00000215417	Chromatin interaction
ENSG00000207751	Chromatin interaction
ENSG00000100023	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12160982	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12172286	1.00[CEU][hapmap]
rs17004026	1.00[EUR][1000 genomes]
rs2194827	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28436610	1.00[EUR][1000 genomes]
rs55771333	1.00[EUR][1000 genomes]
rs58384889	1.00[EUR][1000 genomes]
rs5994603	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5994629	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998534	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998537	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998640	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998657	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998690	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998733	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61757961	1.00[EUR][1000 genomes]
rs61763373	1.00[EUR][1000 genomes]
rs61763394	1.00[EUR][1000 genomes]
rs7289600	1.00[EUR][1000 genomes]
rs73384145	1.00[EUR][1000 genomes]
rs8139523	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
4	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
5	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
6	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
8	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
9	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
10	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21939600-21983200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:21946400-21980200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:21950000-21978600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:21959000-21981200	Strong transcription	Dnd41	blood
5	chr22:21963600-21978800	Strong transcription	Fetal Thymus	thymus
6	chr22:21966400-21982800	Weak transcription	Small Intestine	intestine
7	chr22:21968200-21980600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr22:21968600-21981000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:21969000-21978800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr22:21969000-21982400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:21969000-21983400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr22:21969200-21977800	Weak transcription	HSMMtube	muscle
13	chr22:21969200-21978200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:21969200-21981000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr22:21970600-21977800	Weak transcription	HMEC	breast
16	chr22:21970600-21980800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr22:21972200-21979400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr22:21972600-21978600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:21972600-21981000	Strong transcription	Primary T cells from cord blood	blood
20	chr22:21973000-21979600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:21973000-21980400	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr22:21973200-21978400	Strong transcription	HepG2	liver
23	chr22:21973600-21978800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr22:21973600-21982400	Strong transcription	Thymus	Thymus
25	chr22:21973800-21978200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr22:21974000-21983400	Weak transcription	Fetal Kidney	kidney
27	chr22:21974400-21978000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr22:21974400-21978600	Weak transcription	Stomach Mucosa	stomach
29	chr22:21974400-21978800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr22:21974400-21980000	Genic enhancers	Fetal Muscle Leg	muscle
31	chr22:21974400-21981000	Strong transcription	GM12878-XiMat	blood
32	chr22:21974600-21977800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr22:21974600-21978200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr22:21974600-21978400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr22:21974600-21978600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr22:21974600-21979400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr22:21974800-21978400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr22:21974800-21979600	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr22:21974800-21979600	Strong transcription	Fetal Intestine Large	intestine
40	chr22:21974800-21979800	Genic enhancers	Fetal Muscle Trunk	muscle
41	chr22:21974800-21982400	Strong transcription	Fetal Intestine Small	intestine
42	chr22:21975000-21977800	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr22:21975200-21979600	Enhancers	Brain Substantia Nigra	brain
44	chr22:21975400-21978000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr22:21975400-21978400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr22:21975400-21981600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr22:21975600-21978400	Weak transcription	Fetal Heart	heart
48	chr22:21975600-21978400	Strong transcription	Osteobl	bone
49	chr22:21975600-21978800	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr22:21975600-21981200	Weak transcription	Rectal Smooth Muscle	rectum

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