Variant report

Variant	rs59222333
Chromosome Location	chr4:148807701-148807702
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148796743..148799400-chr4:148805764..148808570,2	K562	blood:
2	chr4:148801731..148805198-chr4:148807083..148810051,3	K562	blood:

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10010996	1.00[EUR][1000 genomes]
rs10012122	1.00[EUR][1000 genomes]
rs10213616	1.00[EUR][1000 genomes]
rs10519932	1.00[EUR][1000 genomes]
rs1436492	1.00[EUR][1000 genomes]
rs17023827	1.00[EUR][1000 genomes]
rs17023950	1.00[EUR][1000 genomes]
rs17023959	1.00[EUR][1000 genomes]
rs17024108	1.00[EUR][1000 genomes]
rs17024163	1.00[EUR][1000 genomes]
rs28371967	1.00[EUR][1000 genomes]
rs41435251	1.00[EUR][1000 genomes]
rs55689306	1.00[EUR][1000 genomes]
rs56742479	1.00[EUR][1000 genomes]
rs58776118	1.00[EUR][1000 genomes]
rs59129054	1.00[EUR][1000 genomes]
rs59845678	1.00[EUR][1000 genomes]
rs6813344	1.00[EUR][1000 genomes]
rs6815620	1.00[EUR][1000 genomes]
rs6848211	1.00[EUR][1000 genomes]
rs72957764	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72957767	1.00[EUR][1000 genomes]
rs72957792	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs731989	1.00[EUR][1000 genomes]
rs73853711	1.00[EUR][1000 genomes]
rs7661589	1.00[EUR][1000 genomes]
rs7663257	1.00[EUR][1000 genomes]
rs7699281	1.00[EUR][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	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148768400-148815600	Weak transcription	Primary T cells from cord blood	blood
2	chr4:148777000-148823000	Weak transcription	Small Intestine	intestine
3	chr4:148784400-148810800	Weak transcription	Fetal Heart	heart
4	chr4:148786000-148861400	Weak transcription	Pancreas	Pancrea
5	chr4:148794800-148810200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:148794800-148824600	Weak transcription	A549	lung
7	chr4:148796000-148809600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr4:148796800-148808200	Weak transcription	Lung	lung
9	chr4:148796800-148812800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:148796800-148863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr4:148796800-148866000	Weak transcription	Thymus	Thymus
12	chr4:148797000-148812000	Weak transcription	Fetal Kidney	kidney
13	chr4:148797000-148834200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:148797000-148835800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:148797400-148808000	Weak transcription	HUVEC	blood vessel
16	chr4:148797400-148810000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:148797400-148812400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr4:148797400-148814400	Weak transcription	NH-A	brain
19	chr4:148797400-148815400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr4:148797400-148879600	Weak transcription	Gastric	stomach
21	chr4:148797600-148810000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr4:148797600-148815200	Weak transcription	Fetal Lung	lung
23	chr4:148797600-148820000	Weak transcription	Right Ventricle	heart
24	chr4:148797600-148820200	Weak transcription	Osteobl	bone
25	chr4:148797600-148824600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:148798200-148809600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:148801000-148810400	Strong transcription	Adipose Nuclei	Adipose
28	chr4:148801600-148817600	Weak transcription	HMEC	breast
29	chr4:148801800-148830200	Weak transcription	NHEK	skin
30	chr4:148802200-148811200	Strong transcription	Fetal Muscle Leg	muscle
31	chr4:148802400-148809600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:148802400-148815600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr4:148802600-148813400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:148802800-148809600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:148803600-148810400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr4:148803800-148807800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:148804200-148809600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:148804200-148810600	Strong transcription	Ovary	ovary
39	chr4:148804200-148812000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:148804400-148808000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:148804600-148810800	Strong transcription	Aorta	Aorta
42	chr4:148804600-148854400	Weak transcription	Psoas Muscle	Psoas
43	chr4:148805200-148807800	Strong transcription	NHDF-Ad	bronchial
44	chr4:148805200-148824200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:148806000-148808400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:148806200-148818000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:148806200-148824200	Weak transcription	HSMMtube	muscle
48	chr4:148806400-148810600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:148806400-148813400	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:148806400-148813400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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