Variant report

Variant	rs61065920
Chromosome Location	chr22:29722442-29722443
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29701505..29704721-chr22:29721557..29726932,5	MCF-7	breast:
2	chr22:29715103..29718261-chr22:29720462..29723829,3	MCF-7	breast:
3	chr22:29708019..29709690-chr22:29721356..29724944,3	MCF-7	breast:
4	chr22:29721161..29722809-chr22:29736346..29738790,2	K562	blood:
5	chr22:29715357..29719957-chr22:29720911..29723653,4	K562	blood:

Variant related genes	Relation type
ENSG00000100280	Chromatin interaction
ENSG00000100276	Chromatin interaction
ENSG00000185340	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58816224	1.00[AFR][1000 genomes]
rs59999468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60503689	1.00[AFR][1000 genomes]
rs61295298	1.00[AFR][1000 genomes]
rs61737776	1.00[AMR][1000 genomes]
rs73884709	1.00[AMR][1000 genomes]
rs73884715	0.92[AFR][1000 genomes];1.00[AMR][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	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
5	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29707400-29740000	Weak transcription	Hela-S3	cervix
2	chr22:29711800-29722600	Weak transcription	Aorta	Aorta
3	chr22:29711800-29722600	Weak transcription	Left Ventricle	heart
4	chr22:29711800-29733400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr22:29713400-29722600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr22:29715000-29722600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr22:29717400-29722600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:29717400-29723000	Weak transcription	Fetal Thymus	thymus
9	chr22:29717600-29722600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:29717600-29723000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr22:29718400-29722600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr22:29718400-29724200	Weak transcription	Ovary	ovary
13	chr22:29718600-29724000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr22:29718800-29722600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr22:29719000-29722600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr22:29719000-29724000	Weak transcription	NHEK	skin
17	chr22:29719200-29722600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr22:29719200-29724000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:29719200-29725400	Weak transcription	Primary B cells from cord blood	blood
20	chr22:29719400-29722600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr22:29719400-29722600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr22:29719400-29730600	Weak transcription	HepG2	liver
23	chr22:29719600-29722600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr22:29719600-29722600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr22:29719600-29730800	Weak transcription	HMEC	breast
26	chr22:29719800-29723800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr22:29719800-29724000	Weak transcription	HSMMtube	muscle
28	chr22:29720000-29723000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr22:29720200-29722600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr22:29720200-29726800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr22:29720400-29722600	Weak transcription	GM12878-XiMat	blood
32	chr22:29720400-29723400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr22:29720600-29723600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr22:29720600-29725800	Weak transcription	Small Intestine	intestine
35	chr22:29720600-29726000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr22:29720600-29732200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:29720600-29740000	Weak transcription	Fetal Brain Male	brain
38	chr22:29720800-29722800	Weak transcription	HSMM	muscle
39	chr22:29721000-29723800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr22:29721000-29725000	Weak transcription	NH-A	brain
41	chr22:29721200-29723800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr22:29721200-29726800	Weak transcription	Right Atrium	heart
43	chr22:29721200-29732000	Weak transcription	K562	blood
44	chr22:29721400-29722800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr22:29721400-29724600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr22:29721400-29727000	Strong transcription	Placenta	Placenta
47	chr22:29721400-29738200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr22:29721400-29746800	Strong transcription	Fetal Intestine Small	intestine
49	chr22:29721600-29725800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr22:29721800-29724200	Weak transcription	Colon Smooth Muscle	Colon

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