Variant report

Variant	rs73403006
Chromosome Location	chr22:29697253-29697254
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29666189..29669898-chr22:29695758..29699606,3	K562	blood:
2	chr22:29661802..29668258-chr22:29692795..29700190,12	K562	blood:

Variant related genes	Relation type
ENSG00000182944	Chromatin interaction
ENSG00000100263	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs2231397	1.00[AMR][1000 genomes]
rs56678071	1.00[AMR][1000 genomes]
rs58075735	1.00[AMR][1000 genomes]
rs58668414	1.00[AMR][1000 genomes]
rs58938110	1.00[AMR][1000 genomes]
rs60160467	0.90[AFR][1000 genomes]
rs60483568	1.00[AMR][1000 genomes]
rs60619083	1.00[AMR][1000 genomes]
rs60770384	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390897	1.00[AMR][1000 genomes]
rs73393032	1.00[AMR][1000 genomes]
rs73393045	1.00[AMR][1000 genomes]
rs73397022	1.00[AMR][1000 genomes]
rs73401064	1.00[AMR][1000 genomes]
rs73401075	1.00[AMR][1000 genomes]
rs73401085	1.00[AMR][1000 genomes]
rs73401086	1.00[AMR][1000 genomes]
rs73401088	1.00[AMR][1000 genomes]
rs73401101	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403003	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403025	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403028	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403032	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403036	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403038	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403080	0.90[AFR][1000 genomes]
rs73405063	1.00[AMR][1000 genomes]
rs73405072	1.00[AMR][1000 genomes]
rs73407010	1.00[AMR][1000 genomes]
rs73407015	1.00[AMR][1000 genomes]
rs73407023	1.00[AMR][1000 genomes]
rs73407027	1.00[AMR][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	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
6	nsv914959	chr22:29696438-29712874	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv914960	chr22:29696438-29714069	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr22:29667600-29697800	Strong transcription	Fetal Muscle Trunk	muscle
2	chr22:29667800-29697800	Strong transcription	Fetal Thymus	thymus
3	chr22:29668000-29697600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr22:29668000-29697600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr22:29668000-29698000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:29668000-29698200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr22:29668200-29697400	Strong transcription	HMEC	breast
8	chr22:29668200-29697600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr22:29668200-29697800	Strong transcription	Fetal Muscle Leg	muscle
10	chr22:29668200-29698000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr22:29668200-29698400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:29668200-29698400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr22:29668400-29698000	Strong transcription	Stomach Smooth Muscle	stomach
14	chr22:29668600-29697600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr22:29668600-29698000	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr22:29668800-29697800	Strong transcription	HSMM	muscle
17	chr22:29669000-29698400	Strong transcription	Thymus	Thymus
18	chr22:29669200-29698000	Strong transcription	Fetal Brain Female	brain
19	chr22:29669400-29697400	Strong transcription	NHLF	lung
20	chr22:29669400-29698400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:29669400-29698400	Strong transcription	Brain Germinal Matrix	brain
22	chr22:29670400-29697600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:29670600-29702400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr22:29672200-29697400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr22:29672600-29698800	Strong transcription	Fetal Stomach	stomach
26	chr22:29672800-29697600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:29673200-29697400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr22:29673200-29697800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr22:29673200-29697800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr22:29673200-29697800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr22:29673200-29698000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr22:29673200-29698400	Strong transcription	Gastric	stomach
33	chr22:29673400-29697400	Strong transcription	Adipose Nuclei	Adipose
34	chr22:29673400-29697400	Strong transcription	Liver	Liver
35	chr22:29673400-29697400	Strong transcription	Ovary	ovary
36	chr22:29673400-29697800	Strong transcription	Primary T cells from cord blood	blood
37	chr22:29673800-29697400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr22:29674200-29697600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr22:29674200-29698000	Strong transcription	Fetal Intestine Large	intestine
40	chr22:29674200-29698200	Strong transcription	Spleen	Spleen
41	chr22:29674200-29698600	Strong transcription	Fetal Intestine Small	intestine
42	chr22:29674400-29697800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr22:29675200-29697400	Strong transcription	Dnd41	blood
44	chr22:29678000-29697800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr22:29678000-29698800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr22:29680200-29697400	Strong transcription	A549	lung
47	chr22:29684400-29697400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr22:29686400-29698600	Weak transcription	Right Atrium	heart
49	chr22:29687000-29697800	Strong transcription	Pancreas	Pancrea
50	chr22:29687000-29698000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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