Variant report

Variant	rs57305184
Chromosome Location	chr4:147201347-147201348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10519784	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10519786	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10519805	0.80[AMR][1000 genomes]
rs16998677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17021340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17021345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17021355	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17021362	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17021365	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17021409	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2291379	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4561947	0.88[AMR][1000 genomes]
rs58203372	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58738547	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58800297	0.96[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58997046	0.80[AMR][1000 genomes]
rs59524631	0.92[AMR][1000 genomes]
rs59758996	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59811977	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59890707	0.96[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59916828	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59937090	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs60175042	0.96[AMR][1000 genomes]
rs60862748	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61016468	0.96[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61219941	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147164800-147207200	Weak transcription	Thymus	Thymus
2	chr4:147165000-147207200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:147165200-147207200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:147166000-147207800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:147166800-147207200	Weak transcription	Right Ventricle	heart
6	chr4:147167000-147207200	Weak transcription	Aorta	Aorta
7	chr4:147167000-147217600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:147167400-147209000	Weak transcription	Ovary	ovary
9	chr4:147174200-147206800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:147174800-147207800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:147174800-147218400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:147175400-147225400	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:147175800-147206800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:147176800-147207200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:147177400-147213400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr4:147178200-147207800	Weak transcription	Primary B cells from cord blood	blood
18	chr4:147179000-147207200	Weak transcription	Fetal Stomach	stomach
19	chr4:147179200-147206800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:147179200-147207200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:147179400-147205400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:147179400-147206800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:147179400-147217200	Weak transcription	Left Ventricle	heart
24	chr4:147179600-147214200	Weak transcription	Dnd41	blood
25	chr4:147180400-147206600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:147180400-147233200	Weak transcription	Liver	Liver
27	chr4:147180600-147208200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:147182600-147207200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr4:147184000-147206800	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:147184000-147207200	Weak transcription	Lung	lung
31	chr4:147184600-147204200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:147184600-147207000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:147186600-147212800	Weak transcription	Psoas Muscle	Psoas
34	chr4:147188400-147215200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:147189200-147207600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:147189800-147205000	Weak transcription	Adipose Nuclei	Adipose
37	chr4:147193400-147206400	Weak transcription	Primary T cells from cord blood	blood
38	chr4:147194600-147207200	Weak transcription	Esophagus	oesophagus
39	chr4:147197000-147205000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr4:147197000-147205000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr4:147197200-147207200	Weak transcription	Pancreas	Pancrea
42	chr4:147197400-147206200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr4:147197400-147213200	Weak transcription	K562	blood
44	chr4:147197600-147207200	Weak transcription	Fetal Intestine Large	intestine
45	chr4:147198000-147224000	Weak transcription	Fetal Intestine Small	intestine
46	chr4:147200400-147205200	Weak transcription	GM12878-XiMat	blood
47	chr4:147200600-147206600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:147200800-147204600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:147200800-147207400	Weak transcription	Fetal Kidney	kidney
50	chr4:147201000-147207200	Weak transcription	Fetal Lung	lung

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