Variant report

Variant	rs58203372
Chromosome Location	chr4:147212775-147212776
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147212311..147214185-chr4:147214535..147216108,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10519784	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10519786	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10519805	0.84[AMR][1000 genomes]
rs16998677	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17021340	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17021345	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17021355	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17021362	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17021365	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17021409	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2291379	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4561947	0.92[AMR][1000 genomes]
rs57305184	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58738547	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58800297	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs58997046	0.84[AMR][1000 genomes]
rs59524631	0.96[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs59758996	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59811977	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59890707	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs59916828	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59937090	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60175042	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs60862748	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61016468	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61219941	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv819040	chr4:147212242-147217906	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147167000-147217600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:147174800-147218400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr4:147175400-147225400	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:147177400-147213400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr4:147179400-147217200	Weak transcription	Left Ventricle	heart
7	chr4:147179600-147214200	Weak transcription	Dnd41	blood
8	chr4:147180400-147233200	Weak transcription	Liver	Liver
9	chr4:147186600-147212800	Weak transcription	Psoas Muscle	Psoas
10	chr4:147188400-147215200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:147197400-147213200	Weak transcription	K562	blood
12	chr4:147198000-147224000	Weak transcription	Fetal Intestine Small	intestine
13	chr4:147201000-147224800	Weak transcription	HMEC	breast
14	chr4:147201000-147225400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:147201000-147249600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:147201600-147214600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:147204000-147220800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:147205600-147214000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:147205800-147217600	Weak transcription	Fetal Brain Female	brain
20	chr4:147206000-147216400	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:147206200-147213800	Weak transcription	Placenta	Placenta
22	chr4:147206200-147217600	Weak transcription	Fetal Brain Male	brain
23	chr4:147206200-147225400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:147206800-147218000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:147207600-147213000	Weak transcription	HSMM	muscle
26	chr4:147207600-147216600	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:147207600-147226600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:147208200-147213800	Weak transcription	Spleen	Spleen
29	chr4:147208200-147217000	Weak transcription	Fetal Kidney	kidney
30	chr4:147208200-147219200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:147208200-147220600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr4:147208200-147232800	Weak transcription	Aorta	Aorta
33	chr4:147208200-147234200	Weak transcription	Lung	lung
34	chr4:147208200-147247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr4:147208400-147213400	Weak transcription	Fetal Stomach	stomach
36	chr4:147208400-147214800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:147208400-147221600	Weak transcription	Pancreas	Pancrea
38	chr4:147208400-147222400	Weak transcription	Esophagus	oesophagus
39	chr4:147208400-147224000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:147208400-147228400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:147208400-147249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:147208400-147254600	Weak transcription	Gastric	stomach
43	chr4:147208600-147212800	Weak transcription	Right Ventricle	heart
44	chr4:147208600-147254800	Weak transcription	Adipose Nuclei	Adipose
45	chr4:147209000-147217200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:147209200-147216600	Weak transcription	Fetal Lung	lung
47	chr4:147209200-147249000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:147209400-147214400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:147209400-147225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:147209400-147227800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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