Variant report

Variant	rs5998690
Chromosome Location	chr22:21970591-21970592
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:21968813..21971522-chr22:21971879..21975067,3	MCF-7	breast:
2	chr22:21949000..21951172-chr22:21970571..21974664,3	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12160982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16984988	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17004026	1.00[EUR][1000 genomes]
rs2194827	0.93[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5994629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998662	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998733	0.93[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:126 , 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	chr22:21949200-21976600	Weak transcription	Fetal Brain Male	brain
4	chr22:21950000-21978600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:21959000-21981200	Strong transcription	Dnd41	blood
6	chr22:21960200-21974800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr22:21960400-21971200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:21960400-21976600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:21961400-21970600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr22:21961600-21973600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:21962200-21973000	Weak transcription	Psoas Muscle	Psoas
12	chr22:21963400-21970600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr22:21963400-21970600	Strong transcription	Primary T cells from cord blood	blood
14	chr22:21963600-21970600	Strong transcription	Primary B cells from cord blood	blood
15	chr22:21963600-21970600	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr22:21963600-21970600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr22:21963600-21971200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr22:21963600-21978800	Strong transcription	Fetal Thymus	thymus
19	chr22:21963800-21970600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr22:21964200-21970600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr22:21964200-21970600	Strong transcription	Primary hematopoietic stem cells	blood
22	chr22:21964400-21970600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr22:21964400-21970600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr22:21964400-21970600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr22:21964400-21970600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr22:21964400-21971800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr22:21964600-21970600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr22:21964600-21971200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr22:21965000-21970600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr22:21965200-21970600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr22:21965200-21974200	Strong transcription	Fetal Intestine Small	intestine
32	chr22:21966000-21970600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:21966000-21970600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr22:21966000-21973200	Weak transcription	Fetal Kidney	kidney
35	chr22:21966000-21973600	Weak transcription	Esophagus	oesophagus
36	chr22:21966000-21974800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr22:21966400-21976400	Weak transcription	Brain Angular Gyrus	brain
38	chr22:21966400-21976600	Weak transcription	Fetal Lung	lung
39	chr22:21966400-21982800	Weak transcription	Small Intestine	intestine
40	chr22:21966600-21973600	Weak transcription	NHLF	lung
41	chr22:21966600-21974200	Weak transcription	Fetal Heart	heart
42	chr22:21966600-21974400	Weak transcription	Brain Substantia Nigra	brain
43	chr22:21966800-21973600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr22:21966800-21976200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr22:21967000-21976200	Weak transcription	NHDF-Ad	bronchial
46	chr22:21967400-21976400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr22:21967600-21970600	Strong transcription	HMEC	breast
48	chr22:21968200-21971400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr22:21968200-21980600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr22:21968400-21970600	Strong transcription	NHEK	skin

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