Variant report

Variant	rs5998640
Chromosome Location	chr22:21952751-21952752
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	chr22:21951983..21954689-chr22:21981334..21984467,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161179	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12160982	1.00[YRI][hapmap];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]
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]
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]
rs5998690	1.00[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]
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:7 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21937800-21965400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:21939000-21954000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:21939600-21983200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr22:21942600-21960800	Weak transcription	Small Intestine	intestine
5	chr22:21943400-21963600	Strong transcription	Fetal Intestine Small	intestine
6	chr22:21943800-21954200	Strong transcription	Dnd41	blood
7	chr22:21945000-21955200	Strong transcription	Fetal Stomach	stomach
8	chr22:21945800-21954200	Strong transcription	GM12878-XiMat	blood
9	chr22:21946000-21954000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:21946200-21953200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr22:21946200-21954000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr22:21946200-21954600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:21946400-21960200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:21946400-21980200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr22:21946600-21953800	Strong transcription	HSMM	muscle
16	chr22:21946800-21954000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr22:21946800-21954200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr22:21947200-21954000	Strong transcription	Fetal Muscle Leg	muscle
19	chr22:21948800-21953200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr22:21948800-21953400	Weak transcription	Brain Angular Gyrus	brain
21	chr22:21948800-21953600	Weak transcription	Psoas Muscle	Psoas
22	chr22:21948800-21965200	Weak transcription	Fetal Kidney	kidney
23	chr22:21949200-21960400	Weak transcription	Fetal Heart	heart
24	chr22:21949200-21976600	Weak transcription	Fetal Brain Male	brain
25	chr22:21949400-21960200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr22:21949400-21965400	Weak transcription	Hela-S3	cervix
27	chr22:21949600-21952800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr22:21949600-21956400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr22:21949600-21965200	Weak transcription	Colon Smooth Muscle	Colon
30	chr22:21949800-21953400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr22:21949800-21953400	Weak transcription	Gastric	stomach
32	chr22:21949800-21956400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr22:21949800-21956400	Weak transcription	Ovary	ovary
34	chr22:21949800-21956600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr22:21949800-21956600	Weak transcription	HSMMtube	muscle
36	chr22:21949800-21960200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr22:21949800-21960400	Weak transcription	Colonic Mucosa	Colon
38	chr22:21949800-21965200	Weak transcription	Brain Anterior Caudate	brain
39	chr22:21949800-21965400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr22:21949800-21965400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr22:21949800-21968800	Weak transcription	Stomach Mucosa	stomach
42	chr22:21950000-21953200	Weak transcription	Right Ventricle	heart
43	chr22:21950000-21953400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr22:21950000-21953400	Weak transcription	Left Ventricle	heart
45	chr22:21950000-21953400	Weak transcription	Pancreas	Pancrea
46	chr22:21950000-21956400	Weak transcription	Primary B cells from cord blood	blood
47	chr22:21950000-21956400	Weak transcription	Lung	lung
48	chr22:21950000-21956800	Weak transcription	Right Atrium	heart
49	chr22:21950000-21960000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr22:21950000-21960400	Weak transcription	Brain Germinal Matrix	brain

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