Variant report

Variant	rs4499593
Chromosome Location	chr3:143554835-143554836
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	chr3:143552824..143555742-chr3:143557678..143559714,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16854362	1.00[ASW][hapmap]
rs16854417	1.00[MEX][hapmap]
rs16854423	1.00[MEX][hapmap]
rs17591646	1.00[CHB][hapmap]

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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv3418674	chr3:143457005-143558357	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1009935	chr3:143497700-143610852	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143539800-143558200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:143541400-143565200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:143545400-143558800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:143545600-143565400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr3:143546000-143559000	Weak transcription	Primary B cells from cord blood	blood
6	chr3:143547000-143558200	Weak transcription	Esophagus	oesophagus
7	chr3:143549200-143565200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:143549400-143565000	Weak transcription	Primary T cells from cord blood	blood
9	chr3:143550000-143558200	Weak transcription	Right Atrium	heart
10	chr3:143550000-143565200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:143550200-143558800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr3:143550600-143555000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:143550600-143555000	Weak transcription	HSMMtube	muscle
14	chr3:143550600-143558000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:143551200-143558000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:143551400-143555000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:143551400-143561600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr3:143551400-143563000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:143551400-143565800	Weak transcription	Adipose Nuclei	Adipose
20	chr3:143551600-143558000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr3:143551600-143559800	Weak transcription	Stomach Mucosa	stomach
22	chr3:143551800-143558000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr3:143551800-143563600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr3:143552000-143558800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:143552200-143557400	Enhancers	Brain Substantia Nigra	brain
26	chr3:143552400-143555600	Enhancers	Brain Angular Gyrus	brain
27	chr3:143552600-143558200	Weak transcription	Ovary	ovary
28	chr3:143552600-143558200	Weak transcription	GM12878-XiMat	blood
29	chr3:143552800-143556400	Weak transcription	Colon Smooth Muscle	Colon
30	chr3:143552800-143557200	Enhancers	Fetal Lung	lung
31	chr3:143553400-143555600	Enhancers	Brain Anterior Caudate	brain
32	chr3:143553600-143556600	Enhancers	Brain Cingulate Gyrus	brain
33	chr3:143553600-143557400	Enhancers	Brain Hippocampus Middle	brain
34	chr3:143554200-143565800	Weak transcription	Fetal Muscle Leg	muscle
35	chr3:143554600-143555400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr3:143554600-143555400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr3:143554800-143555600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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